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1.  Magnetic resonance imaging correlates of first-episode psychosis in young adult male patients: combined analysis of grey and white matter 
Background
Several patterns of grey and white matter changes have been separately described in young adults with first-episode psychosis. Concomitant investigation of grey and white matter densities in patients with first-episode psychosis without other psychiatric comorbidities that include all relevant imaging markers could provide clues to the neurodevelopmental hypothesis in schizophrenia.
Methods
We recruited patients with first-episode psychosis diagnosed according to the DSM-IV-TR and matched controls. All participants underwent magnetic resonance imaging (MRI). Voxel-based morphometry (VBM) analysis and mean diffusivity voxel-based analysis (VBA) were used for grey matter data. Fractional anisotropy and axial, radial and mean diffusivity were analyzed using tract-based spatial statistics (TBSS) for white matter data.
Results
We included 15 patients and 16 controls. The mean diffusivity VBA showed significantly greater mean diffusivity in the first-episode psychosis than in the control group in the lingual gyrus bilaterally, the occipital fusiform gyrus bilaterally, the right lateral occipital gyrus and the right inferior temporal gyrus. Moreover, the TBSS analysis revealed a lower fractional anisotropy in the first-episode psychosis than in the control group in the genu of the corpus callosum, minor forceps, corticospinal tract, right superior longitudinal fasciculus, left middle cerebellar peduncle, left inferior longitudinal fasciculus and the posterior part of the fronto-occipital fasciculus. This analysis also revealed greater radial diffusivity in the first-episode psychosis than in the control group in the right corticospinal tract, right superior longitudinal fasciculus and left middle cerebellar peduncle.
Limitations
The modest sample size and the absence of women in our series could limit the impact of our results.
Conclusion
Our results highlight the structural vulnerability of grey matter in posterior areas of the brain among young adult male patients with first-episode psychosis. Moreover, the concomitant greater radial diffusivity within several regions already revealed by the fractional anisotropy analysis supports the idea of a late myelination in patients with first-episode psychosis.
doi:10.1503/jpn.110057
PMCID: PMC3447129  PMID: 22748698
2.  Cerebellar Mutism in Children: Report of Six Cases and Potential Mechanisms 
Pediatric Neurology  1997;16(3):218-219.
Cerebellar mutism is a rare finding associated with resection of posterior fossa tumors or cerebellar hemorrhages. We reviewed the medical records of six children, aged 6 to 12 years, who developed cerebellar mutism after resection of a posterior fossa mass or as a result of posterior fossa trauma. From 1989 to 1994, 210 children underwent posterior fossa resection at our institution, and four developed mutism (an incidence of 1.6%). All four patients had primitive neuroectodermal tumors. The fifth patient experienced trauma, and another patient had an arteriovenous malformation (AVM). In four children, hydrocephalus developed as a result of their tumor or AVM. Four developed cerebellar mutism 24 to 48 hours after surgery or trauma, and one developed cerebellar mutism 5 days after surgery, coincident with hydrocephalus. In one, mutism occurred after a second resection was performed for a recurrence of his posterior fossa tumor. Cerebellar mutism lasted 10 days in one patient and 2 to 8 weeks in the other four. Dysarthria was apparent in four patients during the recovery phase. We suggest trauma to the dentate nucleus and/or its outflow tract, the superior cerebellar peduncle, as a cause of reversible mutism. Because posterior fossa tumors are common in children, mutism should be recognized as an important side effect of surgery.
PMCID: PMC3399684  PMID: 9165512
3.  Diffusion Tensor Imaging of Parkinson’s Disease, Multiple System Atrophy and Progressive Supranuclear Palsy: A Tract-Based Spatial Statistics Study 
PLoS ONE  2014;9(11):e112638.
Although often clinically indistinguishable in the early stages, Parkinson’s disease (PD), Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) have distinct neuropathological changes. The aim of the current study was to identify white matter tract neurodegeneration characteristic of each of the three syndromes. Tract-based spatial statistics (TBSS) was used to perform a whole-brain automated analysis of diffusion tensor imaging (DTI) data to compare differences in fractional anisotropy (FA) and mean diffusivity (MD) between the three clinical groups and healthy control subjects. Further analyses were conducted to assess the relationship between these putative indices of white matter microstructure and clinical measures of disease severity and symptoms. In PSP, relative to controls, changes in DTI indices consistent with white matter tract degeneration were identified in the corpus callosum, corona radiata, corticospinal tract, superior longitudinal fasciculus, anterior thalamic radiation, superior cerebellar peduncle, medial lemniscus, retrolenticular and anterior limb of the internal capsule, cerebral peduncle and external capsule bilaterally, as well as the left posterior limb of the internal capsule and the right posterior thalamic radiation. MSA patients also displayed differences in the body of the corpus callosum corticospinal tract, cerebellar peduncle, medial lemniscus, anterior and superior corona radiata, posterior limb of the internal capsule external capsule and cerebral peduncle bilaterally, as well as the left anterior limb of the internal capsule and the left anterior thalamic radiation. No significant white matter abnormalities were observed in the PD group. Across groups, MD correlated positively with disease severity in all major white matter tracts. These results show widespread changes in white matter tracts in both PSP and MSA patients, even at a mid-point in the disease process, which are not found in patients with PD.
doi:10.1371/journal.pone.0112638
PMCID: PMC4236070  PMID: 25405990
4.  Clinical and neuroanatomical predictors of cerebellar mutism syndrome 
Neuro-Oncology  2012;14(10):1294-1303.
Cerebellar mutism syndrome (CMS) is an important medical challenge in the management of pediatric posterior fossa brain tumors, because it occurs in a subset of children following tumor resection. A definitive clinical profile and neuroanatomical substrate associated with CMS remains unclear. We investigated the relationship between presurgical and clinical variables and the incidence of CMS, along with diffusion tensor imaging, to characterize the integrity of cerebello-thalamo-cerebral white matter pathways. Seventeen children with posterior fossa tumors and CMS, 34 children with posterior fossa tumors without CMS, and 28 healthy children were enrolled in this study. Bilateral cerebello-thalamo-cerebral pathways were delineated and segmented into anatomical regions. Mean integrity measures for each region were compared among children with CMS, children without CMS, and healthy children. Left-handedness, medulloblastoma histology, and larger tumor size distinguished between patients with CMS and patients without CMS (P < .04). Right cerebellar white matter within the cerebello-thalamo-cerebral pathway was compromised in children with CMS relative to children without CMS and healthy children (P < .02). We provide a potential schema for CMS risk among children treated for posterior fossa tumors. Left-handed children treated for medulloblastoma may be the most at risk for CMS, and unilateral, localized damage within the cerebello-thalamo-cerebral pathway at the level of the right cerebellum is implicated in the presentation of CMS. This disruption in communication between the right cerebellum and left frontal cortex may contribute to speech-language problems observed in children with CMS. Our findings may be relevant for surgical planning and speech-language therapy to mitigate symptoms of CMS.
doi:10.1093/neuonc/nos160
PMCID: PMC3452341  PMID: 22952198
cerebellar mutism syndrome; cerebello-thalamo-cerebral pathway; diffusion tensor imaging; posterior fossa syndrome; posterior fossa tumors
5.  Posterior fossa decompression and the cerebellum in Chiari type II malformation: a preliminary MRI study 
Objectives
Chiari type II malformation (CII) is a congenital deformity of the hindbrain. The posterior fossa and cerebellum are small in CII. The cerebellar atrophy is associated with cognitive and motor deficits. Brainstem compression occurs in some patients with CII for whom posterior fossa decompression may be life saving. The aim was to determine whether posterior fossa decompression can prevent or reduce the cerebellar atrophy in CII.
Methods
Cerebellar volumes and their tissue types (gray matter, white matter, and CSF volumes) from brain MRI were compared among four CII patients, aged 9.5 to 16.5 years, who had had posterior fossa decompression in infancy, 28 CII patients who had not had posterior fossa decompression, and ten age-matched normal controls. Parametric and non-parametric tests investigated group differences.
Results
Compared to controls, mean cerebellar volume was significantly smaller in CII patients (p<0.0001). Mean CSF volume within the cerebellar fissures and fourth ventricle was significantly smaller in patients without posterior fossa decompression compared to the CII patients who had the decompression, p=0.043. Mean CSF volume of the latter group was similar to the controls. Other cerebellar volumetric measurements did not differ between the CII groups.
Conclusions
Posterior fossa decompression normalizes CSF spaces within the posterior fossa in CII but does not prevent the cerebellar atrophy. The author proposes that surgical expansion of the posterior fossa should be considered in infants with CII who have a significantly small posterior fossa, to prevent or reduce the deficits associated with the cerebellar atrophy.
doi:10.1007/s00381-010-1359-8
PMCID: PMC3074439  PMID: 21221976
Chiari II malformation; Cerebellum; MRI; Atrophy
6.  Cerebellar development in the preterm neonate: effect of supratentorial brain injury 
Pediatric research  2009;66(1):102-106.
Cerebellar injury has been increasingly recognized as a complication of preterm birth, with decreased cerebellar volumes seen on follow-up neuroimaging. A cohort of 38 preterm newborns, including 14 with two scans, was studied with MRI, including single-shot fast spin-echo (SSFSE) diffusion tensor imaging (DTI) sequence specifically to assess the posterior fossa. Early changes in the cerebellum (apparent diffusion coefficient (ADC) and fractional anisotropy (FA)) were assessed and correlated with supratentorial manifestations of injury (intraventricular hemorrhage (IVH) or white matter injury (WMI)). ADC decreased and FA increased with increasing gestational age in both cerebellar grey and white matter. Severe IVH was associated with increased ADC in the middle cerebellar peduncles and hila of the cerebellar nuclei, decreased ADC in the cerebellar cortex, and decreased FA in all three regions. Changes with WMI were not consistent. Significant developmental changes in water diffusion were seen in cerebellar grey and white matter that were altered in patients with supratentorial IVH. DTI studies may provide an early indicator for cerebellar injury and abnormal cerebellar development in preterm neonates.
doi:10.1203/PDR.0b013e3181a1fb3d
PMCID: PMC2700193  PMID: 19287350
7.  A comprehensive assessment of cerebellar damage in multiple sclerosis using diffusion tractography and volumetric analysis 
Background: White matter (WM) and grey matter (GM) brain damage in multiple sclerosis (MS) is widespread, but the extent of cerebellar involvement and impact on disability needs to be clarified.
Objective: This study aimed to assess cerebellar WM and GM atrophy and the degree of fibre coherence in the main cerebellar connections, and their contribution to disability in relapsing–remitting MS (RRMS) and primary progressive MS (PPMS).
Methods: Fourteen patients with RRMS, 12 patients with PPMS and 16 healthy controls were recruited. Cerebellar WM and GM volumes and tractography-derived measures from the middle and superior cerebellar peduncles, including fractional anisotropy (FA), mean diffusivity (MD), and directional diffusivities, were quantified from magnetic resonance imaging (MRI). Patients were assessed on clinical scores, including the MS Functional Composite score subtests. Linear regression models were used to compare imaging measures between 12 RRMS, 11 PPMS and 16 controls, and investigate their association with clinical scores.
Results: Patients with PPMS showed reduced FA and increased radial diffusivity in the middle cerebellar peduncle compared with controls and patients with RRMS. In PPMS, lower cerebellar WM volume was associated with worse performance on the upper limb test. In the same patient group, we found significant relationships between superior cerebellar peduncle FA and upper limb function, and between superior cerebellar peduncle FA, MD and radial diffusivity and speed of walking.
Conclusion: These findings indicate reduced fibre coherence in the main cerebellar connections, and link damage in the whole cerebellar WM, and, in particular, in the superior cerebellar peduncle, to motor deficit in PPMS.
doi:10.1177/1352458511403528
PMCID: PMC3281565  PMID: 21511688
atrophy; cerebellum; chronic progressive multiple sclerosis; diffusion tensor imaging; magnetic resonance imaging; relapsing–remitting multiple sclerosis
8.  White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging 
NeuroImage  2013;81:441-454.
Children with chromosome 22q11.2 Deletion Syndrome (22q11.2DS), Fragile X Syndrome (FXS), or Turner Syndrome (TS) are considered to belong to distinct genetic groups, as each disorder is caused by separate genetic alterations. Even so, they have similar cognitive and behavioral dysfunctions, particularly in visuospatial and numerical abilities. To assess evidence for common underlying neural microstructural alterations, we set out to determine whether these groups have partially overlapping white matter abnormalities, relative to typically developing controls. We scanned 101 female children between 7 and 14 years old: 25 with 22q11.2DS, 18 with FXS, 17 with TS, and 41 aged-matched controls using diffusion tensor imaging (DTI). Anisotropy and diffusivity measures were calculated and all brain scans were nonlinearly aligned to population and site-specific templates. We performed voxel-based statistical comparisons of the DTI-derived metrics between each disease group and the controls, while adjusting for age. Girls with 22q11.2DS showed lower fractional anisotropy (FA) than controls in the association fibers of the superior and inferior longitudinal fasciculi, the splenium of the corpus callosum, and the corticospinal tract. FA was abnormally lower in girls with FXS in the posterior limbs of the internal capsule, posterior thalami, and precentral gyrus. Girls with TS had lower FA in the inferior longitudinal fasciculus, right internal capsule and left cerebellar peduncle. Partially overlapping neurodevelopmental anomalies were detected in all three neurogenetic disorders. Altered white matter integrity in the superior and inferior longitudinal fasciculi and thalamic to frontal tracts may contribute to the behavioral characteristics of all of these disorders.
doi:10.1016/j.neuroimage.2013.04.028
PMCID: PMC3947617  PMID: 23602925
Diffussion Tensor Imaging; Genetic diseases; Neurodevelopmental diseases; Connectivity
9.  Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings 
Background
Velo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of psychiatric disorders, volumetric reductions in gray and white matter (WM) and some alterations of the WM microstructure. The goal of the current study was to characterize the WM microstructural differences in individuals with VCFS and unaffected siblings, and the correlation of WM microstructure with neuropsychological performance. We hypothesized that individuals with VCFS would have decreased indices of WM microstructure (fractional anisotropy (FA), axial diffusivity (AD) and radial diffusivity (RD)), particularly in WM tracts to the frontal lobe, and that these measures would be correlated with cognitive functioning.
Methods
Thirty-three individuals with VCFS (21 female) and 16 unaffected siblings (8 female) participated in DTI scanning and neuropsychological testing. We performed an atlas-based analysis, extracted FA, AD, and RD measures for 54 WM tracts (27 in each hemisphere) for each participant, and used MANOVAs to compare individuals with VCFS to siblings. For WM tracts that were statistically significantly different between VCFS and siblings (pFDR < 0.05), we assessed the correlations between DTI and neuropsychological measures.
Results
In VCFS individuals as compared to unaffected siblings, we found decreased FA in the uncinate fasciculus, and decreased AD in multiple WM tracts (bilateral superior and posterior corona radiata, dorsal cingulum, inferior fronto-occipital fasciculus, superior longitudinal fasciculus, superior cerebellar peduncle, posterior thalamic radiation, and left anterior corona radiata, retrolenticular part of the internal capsule, external capsule, sagittal stratum). We also found significant correlations of AD with measures of executive function, IQ, working memory, and/or social cognition.
Conclusions
Our results suggest that individuals with VCFS display abnormal WM connectivity in a widespread cerebro-anatomical network, involving tracts from/to all cerebral lobes and the cerebellum. Future studies could focus on the WM developmental trajectory in VCFS, the association of WM alterations with psychiatric disorders, and the effects of candidate 22q11.2 genes on WM anomalies.
doi:10.1186/1744-9081-8-38
PMCID: PMC3533822  PMID: 22853778
VCFS; 22q11.2 deletion; DTI; White matter; LDDMM
10.  Diffusion tensor imaging and voxel based morphometry study in early progressive supranuclear palsy 
Background
A comprehensive characterisation of grey and white matter changes in progressive supranuclear palsy (PSP), the second most common extrapyramidal syndrome after Parkinson disease, is still not available.
Objective
To evaluate grey and white matter changes in mild PSP patients by voxel based morphometry (VBM) and diffusion tensor imaging (DTI), respectively.
Methods
14 mild PSP patients and 14 healthy controls entered the study and underwent a clinical and neuropsychological evaluation according with a standardised assessment. Each subject had a structural magnetic resonance imaging (MRI) study. Processing analysis of MRI data was carried out according to optimised VBM and fractional anisotropy was determined.
Results
Compared with the controls, in PSP patients VBM analysis showed a significant clusters of reduced grey matter in premotor cortex, frontal operculum, anterior insula, hippocampus, and parahippocampal gyrus, bilaterally. With regard to subcortical brain regions, the pulvinar, dorsomedial and anterior nuclei of the thalamus, and superior and inferior culliculum were affected bilaterally. A bilateral decrease in fractional anisotropy in superior longitudinal fasciculus, anterior part of corpus callosum, arcuate fascicolus, posterior thalamic radiations, and internal capsule, probably involving the cortico‐bulbar tracts, was present in PSP patients.
Conclusions
These data provide evidence for both grey and white matter degeneration in PSP from the early disease stage. These structural changes suggest that atrophy of cortical and subcortical structures and neurodegeneration of specific fibre tracts contribute to neurological deficits in PSP.
doi:10.1136/jnnp.2005.075713
PMCID: PMC2077489  PMID: 16306152
progressive supranuclear palsy; magnetic resonance imaging; voxel based morphometry; diffusion tensor imaging
11.  Changes in cerebellar functional connectivity and anatomical connectivity in schizophrenia: A combined resting-state fMRI and DTI study 
Purpose
To study the differences of functional connectivity and anatomical connectivity of the cerebellum between schizophrenic patients and normal controls by combining resting-state functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) method.
Materials and Methods
Both fMRI during rest and DTI were performed on 10 patients and 10 healthy subjects at a GE 3.0 T Signa scanner. Resting-state functional connectivities of the bilateral cerebellum were separately analyzed by selecting seed regions in cerebellum. The integrity of white matter fiber in bilateral middle cerebellar peduncles (MCP) and superior cerebellar peduncles (SCP) was evaluated using fractional anisotropy (FA). Two sample t-test was used to detect differences between patients and normal controls, and correlation test was taken to analyze the correlation between the strength of functional connectivity and anatomical connectivity.
Results
In patients with schizophrenia, the bilateral cerebellum showed reduced functional connectivities to some regions compared to controls, such as left middle temporal gyrus, bilateral middle cingulate cortex, right paracentral lobule, right thalamus, and bilateral cerebellum, and the FA of the left SCP was significantly reduced in patients. Meanwhile, There was significantly positive correlation between the connective strength of both the left cerebellum-right paracentral lobule connectivities and right cerebellum-right thalamus connectivities and the FA of the MCP within the control group.
Conslusion
The multimodal imaging approaches presently used provide a new avenue to understand the role of cerebellum in the pathophysiology of schizophrenia. Meanwhile, the current findings of the functional disconnectivity and damaged anatomical connectivity between the cerrebullum and other regions in schizophrenia suggest that the functional–anatomical relationship need to be further investigated.
doi:10.1002/jmri.22784
PMCID: PMC3221764  PMID: 21976249
Schizophrenia; Cerebellum; Resting-state fMRI; Diffusion tensor imaging; Functional connectivity; Anatomical connectivity
12.  Neuroimaging comparison of Primary Progressive Apraxia of Speech & Progressive Supranuclear Palsy 
Background
Primary progressive apraxia of speech, a motor speech disorder of planning and programming is a tauopathy that has overlapping histological features with progressive supranuclear palsy. We aimed to compare, for the first time, atrophy patterns, as well as white matter tract degeneration, between these two syndromes.
Methods
Sixteen primary progressive apraxia of speech subjects were age and gender-matched to 16 progressive supranuclear palsy subjects and 20 controls. All subjects were prospectively recruited, underwent neurological and speech evaluations, and 3.0 Tesla magnetic resonance imaging. Grey and white matter atrophy was assessed using voxel-based morphometry and atlas-based parcellation, and white matter tract degeneration was assessed using diffusion tensor imaging.
Results
All progressive supranuclear palsy subjects had typical occulomotor/gait impairments but none had speech apraxia. Both syndromes showed grey matter loss in supplementary motor area, white matter loss in posterior frontal lobes and degeneration of the body of the corpus callosum. While lateral grey matter loss was focal, involving superior premotor cortex, in primary progressive apraxia of speech, loss was less focal extending into prefrontal cortex in progressive supranuclear palsy. Caudate volume loss and tract degeneration of superior cerebellar peduncles was also observed in progressive supranuclear palsy. Interestingly, area of the midbrain was reduced in both syndromes compared to controls, although this was greater in progressive supranuclear palsy.
Discussion
Although neuroanatomical differences were identified between these distinctive clinical syndromes, substantial overlap was also observed, including midbrain atrophy, suggesting these two syndromes may have common pathophysiological underpinnings.
doi:10.1111/ene.12004
PMCID: PMC3556348  PMID: 23078273
Progressive supranuclear palsy; apraxia of speech; voxel-based morphometry; diffusion tensor imaging; midbrain
13.  Assessment of degradation of the selected projectile, commissural and association brain fibers in patients with Alzheimer’s disease on diffusion tensor MR imaging 
Polish Journal of Radiology  2010;75(2):7-14.
Summary
Background:
Pathological examinations and the increasingly popular diffusion tensor imaging (DTI) show that in Alzheimer’s disease (AD), the pathology involves not only the cortical and hippocampal structures, but also the white matter of the brain. DTI is a well recognized technique for evaluation of the integrity of white matter fibers. The aim of this study was to assess with the use of DTI some selected brain tracts in patients with AD, as well as to analyze the severity and distribution of the identified changes.
Material/Methods:
Thirty-five patients with AD (mean age of 71.6 years, MMSE 17.6), and a control group of 15 healthy volunteers (mean age of 69.1 years, MMSE 29.8) were enrolled in the study. All patients were subjected to a thorough psychiatric examination and psychological tests. DTI examinations (TE 8500, TR 100) were performed using a 1.5T MR scanner. Fractional anisotropy (FA) measurements in the selected areas of interest (ROI) of the white matter fibers were performed under the control of color FA maps. The following fibers were evaluated – the middle cerebellar peduncles (MCP), the inferior longitudinal fasciculi (ILF), inferior frontooccipital fasciculi (IFO), genu (GCC) and splenium of the corpus callosum (SCC), posterior limbs of internal capsules (PLIC), superior longitudinal fasciculi (SLF) and posterior cingula (CG).
Results:
There was a statistically significant decrease in FA in patients with AD, comparing to the control group. It was particularly strongly expressed in both CG (P<0.0001), followed by both ILF, right IFO, and left SLF. Less pronounced changes were found in GCC, SCC, and left IFO. In both PLICs and MCPs and in the right SLF, there was no significant change of FA.
Conclusions:
In Alzheimer’s disease, there is a significant decrease in FA, which suggests degradation of the majority of the assessed white matter tracts. Distribution of these changes is not uniform. They involve the selected association fibers mainly and, to a lesser extent, the commissural fibers, while they are not found in the pyramidal tracts or medial cerebellar peduncles. Definitely, the most pronounced changes were found in the posterior cingula, the assessment of which (in the process of AD diagnostics) seems to be particularly promising.
PMCID: PMC3389871  PMID: 22802770
Alzheimer’s disease; white matter; diffusion tensor imaging; fractional anisotropy
14.  Diffusion Tensor Imaging in Male Premutation Carriers of the Fragile X Mental Retardation Gene 
Older male premutation carriers of the FMR1 gene are associated with the risk of developing a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). Although previous postmortem and in vivo MRI studies have indicated white matter pathology, the regional selectivity of abnormalities, as well as their relationship with molecular variables of the FMR1 gene, has not been investigated. In this study, we used diffusion tensor imaging (DTI) to study male premutation carriers with and without FXTAS and healthy gender-matched controls. We performed a tract of interest analysis for fractional anisotropy (FA), axial and radial diffusivities of major white matter tracts in the cerebellar-brainstem and limbic systems. Compared with healthy controls, patients with FXTAS showed significant reductions of FA in multiple white matter tracts, including the middle cerebellar peduncle (MCP), superior cerebellar peduncle, cerebral peduncle, and the fornix and stria terminalis. Significant reduction of FA in these tracts were confirmed by a voxel-wise analysis using Tract-Based Spatial Statistics. Analysis of axial and radial diffusivities showed significant elevation of these measures in MCP even among premutation carriers without FXTAS. Furthermore, regression analyses demonstrated clear inverted U-shaped relationship between CGG repeat size and axial and radial diffusivities in MCP. These results provide new evidence from DTI for white matter abnormalities in the cerebellar-brainstem and limbic systems among individuals with the fragile X premutation, and suggest the involvement of molecular mechanisms related to the FMR1 gene in their white matter pathology.
doi:10.1002/mds.23646
PMCID: PMC3119762  PMID: 21484870
DTI; cerebellum; FMR1; FXTAS
15.  Spatial Patterns of Whole Brain Grey and White Matter Injury in Patients with Occult Spastic Diplegic Cerebral Palsy 
PLoS ONE  2014;9(6):e100451.
Spastic diplegic cerebral palsy(SDCP)is a common type of cerebral palsy (CP), which presents as a group of motor-impairment syndromes. Previous conventional MRI studies have reported abnormal structural changes in SDCP, such as periventricular leucomalacia. However, there are roughly 27.8% SDCP patients presenting normal appearance in conventional MRI, which were considered as occult SDCP. In this study, sixteen patients with occult SDCP and 16 age- and sex-matched healthy control subjects were collected and the data were acquired on a 3T MR system. We applied voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) analysis to investigate whole brain grey and white matter injury in occult SDCP. By using VBM method, the grey matter volume reduction was revealed in the bilateral basal ganglia regions, thalamus, insula, and left cerebral peduncle, whereas the white matter atrophy was found to be located in the posterior part of corpus callosum and right posterior corona radiata in the occult SDCP patients. By using TBSS, reduced fractional anisotropy (FA) values were detected in multiple white matter regions, including bilateral white matter tracts in prefrontal lobe, temporal lobe, internal and external capsule, corpus callosum, cingulum, thalamus, brainstem and cerebellum. Additionally, several regions of white matter tracts injury were found to be significantly correlated with motor dysfunction. These results collectively revealed the spatial patterns of whole brain grey and white matter injury in occult SDCP.
doi:10.1371/journal.pone.0100451
PMCID: PMC4070986  PMID: 24964139
16.  Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging 
Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by intellectual disability, hypotonia, ataxia, tachypnea/apnea, and abnormal eye movements. A pathognomonic midbrain-hindbrain malformation seen on cranial magnetic resonance imaging (MRI), which consists of hypoplasia of the midline cerebellar vermis that resembles the cross-section through a molar tooth, has been described previously. The molar tooth sign is defined by a peculiar appearance resembling a molar tooth secondary to an abnormally deep interpeduncular fossa and enlarged superior cerebellar peduncles on axial images at the pontomesencephalic level. The term Joubert Syndrome and Related Disorders (JSRD) has recently been adopted to describe all disorders presenting the “molar tooth sign” (MTS) on brain imaging. JSRD is characterized by lack of decussation of the superior cerebellar peduncles, central pontine tracts and corticospinal tracts suggesting defective axon guidance. Prenatal sonographic findings in fetuses with JSRD are relatively nonspecific and include increased nuchal translucency, enlarged cisterna magna, cerebellar vermian agenesis, occipital encephalocele, ventriculomegaly and polydactyly. We report a case of JSRD detected prenatally at 23 weeks of gestation. The fetus in the present case had a normal karyotype. Sonographic features of the fetus included polydactyly, partial vermian hypoplasia, dilated 4th ventricle and mild ventriculomegaly which were also confirmed by prenatal MRI. MTS was demonstrated in a postnatal MRI after pregnancy termination.
doi:10.5152/jtgga.2011.75
PMCID: PMC3939136  PMID: 24592023
Joubert syndrome; prenatal diagnosis; ultrasonography; polydactyly; cerebellar vermian agenenesis
17.  Orthogonal diffusion-weighted MRI measures distinguish region-specific degeneration in cerebellar ataxia subtypes 
Journal of neurology  2009;256(11):1939-1942.
The cerebellar peduncles are excellent candidates for composite indicators of regional degeneration in posterior fossa structures, as the peduncles show histopathological changes in degenerative ataxia. We postulate that magnetic resonance imaging will reveal evidence of disease specific peduncle degeneration through macro-structural (cross-sectional area) and microstructural (fractional anisotropy, mean diffusivity) measures. This study presents a “proof of principle” using orthogonal diffusion tensor imaging cross-sections of the cerebellar peduncles to distinguish categories of cerebellar disease.
doi:10.1007/s00415-009-5269-1
PMCID: PMC2789274  PMID: 19653028
18.  Regional brain gray and white matter changes in perinatally HIV-infected adolescents☆ 
NeuroImage : Clinical  2013;4:29-34.
Despite the success of antiretroviral therapy (ART), perinatally infected HIV remains a major health problem worldwide. Although advance neuroimaging studies have investigated structural brain changes in HIV-infected adults, regional gray matter (GM) and white matter (WM) volume changes have not been reported in perinatally HIV-infected adolescents and young adults. In this cross-sectional study, we investigated regional GM and WM changes in 16 HIV-infected youths receiving ART (age 17.0 ± 2.9 years) compared with age-matched 14 healthy controls (age 16.3 ± 2.3 years) using magnetic resonance imaging (MRI)-based high-resolution T1-weighted images with voxel based morphometry (VBM) analyses. White matter atrophy appeared in perinatally HIV-infected youths in brain areas including the bilateral posterior corpus callosum (CC), bilateral external capsule, bilateral ventral temporal WM, mid cerebral peduncles, and basal pons over controls. Gray matter volume increase was observed in HIV-infected youths for several regions including the left superior frontal gyrus, inferior occipital gyrus, gyrus rectus, right mid cingulum, parahippocampal gyrus, bilateral inferior temporal gyrus, and middle temporal gyrus compared with controls. Global WM and GM volumes did not differ significantly between groups. These results indicate WM injury in perinatally HIV-infected youths, but the interpretation of the GM results, which appeared as increased regional volumes, is not clear. Further longitudinal studies are needed to clarify if our results represent active ongoing brain infection or toxicity from HIV treatment resulting in neuronal cell swelling and regional increased GM volume. Our findings suggest that assessment of regional GM and WM volume changes, based on VBM procedures, may be an additional measure to assess brain integrity in HIV-infected youths and to evaluate success of current ART therapy for efficacy in the brain.
Highlights
•First time investigation of gray/white matter changes in HIV-infected youths•Brain white matter atrophy observed in the HIV-infected youths•Significantly increased gray matter volume emerged in several regions.•Pilot findings indicate white matter injury in perinatally HIV-infected youths.
doi:10.1016/j.nicl.2013.10.012
PMCID: PMC3874468  PMID: 24380059
ART, antiretroviral therapy; MRI, magnetic resonance imaging; VBM, voxel based morphometry; GM, gray matter; WM, white matter; SPM, statistical parametric mapping; CSF, cerebrospinal fluid; WMV, white matter volume; GMV, gray matter volume; HIV; Antiretroviral therapy; Voxel based morphometry; Statistical parametric mapping; Gray matter; White matter
19.  Analysis of the Volumes of the Posterior Cranial Fossa, Cerebellum, and Herniated Tonsils Using the Stereological Methods in Patients with Chiari Type I Malformation 
The Scientific World Journal  2012;2012:616934.
Objective. The aim of this study was to determine the posterior cranial fossa volume, cerebellar volume, and herniated tonsillar volume in patients with chiari type I malformation and control subjects using stereological methods. Material and Methods. These volumes were estimated retrospectively using the Cavalieri principle as a point-counting technique. We used magnetic resonance images taken from 25 control subjects and 30 patients with chiari type I malformation. Results. The posterior cranial fossa volume in patients with chiari type I malformation was significantly smaller than the volume in the control subjects (P < 0.05). In the chiari type I malformation group, the cerebellar volume was smaller than the control group, but this difference was not statistically significant (P > 0.05). In the chiari type I malformation group, the ratio of cerebellar volume to posterior cranial fossa volume was higher than in the control group. We also found a positive correlation between the posterior cranial fossa volume and cerebellar volume for each of the groups (r = 0.865, P < 0.001). The mean (±SD) herniated tonsillar volume and length were 0.89 ± 0.50 cm3 and 9.63 ± 3.37 mm in the chiari type I malformation group, respectively. Conclusion. This study has shown that posterior cranial fossa and cerebellum volumes can be measured by stereological methods, and the ratio of these measurements can contribute to the evaluation of chiari type I malformation cases.
doi:10.1100/2012/616934
PMCID: PMC3354683  PMID: 22629166
20.  Changes in a cerebellar peduncle lesion in a patient with Dandy-Walker malformation: A diffusion tensor imaging study☆ 
Neural Regeneration Research  2013;8(5):474-478.
We report a patient with severe ataxia due to Dandy-Walker malformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was diagnosed with Dandy-Walker syndrome and six age- and sex-matched healthy control subjects were enrolled. The superior cerebellar peduncle, the middle cerebellar peduncle, and the inferior cerebellar peduncle were evaluated using fractional anisotropy and the apparent diffusion coefficient. The patients’ functional ambulation category was 0 at the initial visit, but improved to 2 at the follow-up evaluation, and Berg's balance scale score also improved from 0 to 7. Initial diffusion tensor tractography revealed that the inferior cerebellar peduncle was not detected, that the fractional anisotropy of the superior cerebellar peduncle and middle cerebellar peduncle decreased by two standard deviations below, and that the apparent diffusion coefficient increased by two standard deviations over normal control values. However, on follow-up diffusion tensor tractography, both inferior cerebellar peduncles could be detected, and the fractional anisotropy of superior cerebellar peduncle increased to within two standard deviations of normal controls. The functional improvement in this patient appeared to correspond to changes in these cerebellar peduncles. We believe that evaluating cerebellar peduncles using diffusion tensor imaging is useful in cases when a cerebellar peduncle lesion is suspected.
doi:10.3969/j.issn.1673-5374.2013.05.012
PMCID: PMC4146129  PMID: 25206690
neural regeneration; neuroimaging; Dandy-Walker malformation; cerebellar peduncle; ataxia; cerebral palsy; functional ambulation category; Berg's balance scale; fractional anisotropy; apparent diffusion coefficient; diffusion tensor tractography; diffusion tensor imaging; grants-supported paper; photographs-containing paper; neuroregeneration
21.  Mobility impairment is associated with reduced microstructural integrity of the inferior and superior cerebellar peduncles in elderly with no clinical signs of cerebellar dysfunction☆ 
NeuroImage : Clinical  2013;2:332-340.
While the cerebellum plays a critical role in motor coordination and control no studies have investigated its involvement in idiopathic mobility impairment in community-dwelling elderly. In this study we tested the hypothesis that structural changes in the cerebellar peduncles not detected by conventional magnetic resonance imaging are associated with reduced mobility performance. The analysis involved eighty-five subjects (age range: 75–90 years) who had no clinical signs of cerebellar dysfunction. Based on the short physical performance battery (SPPB) score, we defined mobility status of the subjects in the study as normal (score 11–12, n = 26), intermediate (score 9–10, n = 27) or impaired (score < 9, n = 32). We acquired diffusion tensor imaging data to obtain indices of white matter integrity: fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD). Using a parcellation atlas, regional indices within the superior, middle, and inferior cerebellar peduncles (ICP, MCP, SCP) were calculated and their associations with mobility performance were analyzed. Subjects with impaired mobility showed reduced FA and AD values in the ICP and SCP but not in the MCP. The ICP-FA, ICP-AD and SCP-FA indices showed a significant association with the SPPB score. We also observed significant correlation between ICP-FA and walk time (r = − 0.311, p = 0.004), as well as between SCP-AD and self-paced maximum walking velocity (r = 0.385, p = 0.003) and usual walking velocity (r = 0.400, p = 0.002). In logistic regression analysis ICP-FA and ICP-AD together explained 51% of the variability in the mobility status of a sample comprising the normal and impaired subgroups, and correctly classified more than three-quarters of those subjects. Our findings suggest that presence of microstructural damage, likely axonal, in afferent and efferent connections of the cerebellum contributes to the deterioration of motor performance in older people.
Highlights
•DTI study of the cerebellar peduncles and mobility in elderly.•Fractional anisotropy and axial diffusivity of inferior peduncle predict mobility.•Decreased anisotropy in the peduncles in the absence of T2 lesions.•Findings likely reflect axonal degeneration of proprioceptive afferent fibers.•Abnormalities in infratentorial white matter are novel findings in the field.
doi:10.1016/j.nicl.2013.02.003
PMCID: PMC3777843  PMID: 24179787
Aging; Mobility; Cerebellar peduncles; Diffusion tensor imaging
22.  Bilateral telovelar approach: A safe route revisited for resections of various large fourth ventricle tumors 
Background:
Tumors located in the posterior fossa and especially in the middle and upper fourth ventricle are comparatively rare and technically very challenging. For some lesions, the telovelar approach has been shown to be a suitable approach. The unilateral approach is sufficient in most cases of small lesions. However, large fourth ventricle tumors are more problematic since they distort the normal anatomy with both vermis and cerebellar peduncles thinned and stretched out. This puts the patient at increased risk for a neurological deficit, which is minimized with a bilateral telovelar approach. By illustrating the adequacy of this technique, we emphasize the suitability of a rather unusual bilateral approach, which will provide excellent panoramic visualization of entire fourth ventricle and thus avoids complications usually associated with resections of large fourth ventricle tumors.
Case Description:
Here we present three cases of benign intraventricular tumors (meningioma, solitary fibrous tumor and ependymoma) in patients with site specific symptoms from local mass effect. Typical symptoms of posterior fossa lesions were present preoperatively and resolved after surgery. The bilateral telovelar approach was used to remove these tumors completely and the pertinent intraoperative steps are described for each case. All three patients had excellent postoperative outcome and could be discharged after short hospital stays.
Conclusion:
The different pathological entities could be completely resected without added neurological deficit employing a bilateral approach. In cases of large or giant fourth ventricle tumors, the bilateral telovelar approach provides excellent intraoperative visibility allowing complete excision of extensive tumors with minimal morbidity.
doi:10.4103/2152-7806.126081
PMCID: PMC3942613  PMID: 24678432
Cerebellomedullary fissure; fourth ventricle; microsurgery; telovelar approach
23.  Rhombencephalosynapsis – isolated anomaly or complex malformation? 
Polish Journal of Radiology  2012;77(3):35-38.
Summary
Background:
Rhombencephalosynapsis (RES) is a rare malformation of the posterior cranial fossa, characterized by fusion of the cerebellar hemispheres, medial cerebellar peduncles and dentate nuclei. Over the period of 7 years 8 cases of this anomaly have been diagnosed in two pediatric centers in Warsaw including one on the prenatal magnetic resonance imaging (MRI).
Material/Methods:
Material consists of involves one fetus examined at the gestational age of 27 and 33 weeks and 7 children (5 girls and 2 boys) aged 8 months – 16 years. All of them underwent brain MRI with the use of 1.5T scanners.
Results:
In 1 case RES was an isolated anomaly, in 1 case it was accompanied by hydrocephalus only, in the remaining 6 cases RES was an element of a complex malformation. The additional anomalies were as follows: callosal hypoplasia in 3 children, abnormalities of gyration in 2, brainstem hypoplasia in 2, isolated fourth ventricle in 1, abnormal white matter signal intensity in 4 (in 2 cases in supratentorial compartment, in 1 in the cerebellum and in 1 in the pons), abnormally dilated extraaxial fluid collections in 2, syringohydromyelia in 2. In 5 cases RES was total, in 3 – partial.
Conclusions:
Rhombencephalosynapsis has a very characteristic appearance on magnetic resonance imaging which allows diagnosis of this malformation at any age, including prenatal period.
PMCID: PMC3447431  PMID: 23049579
congenital anomalies; rhombencephalosynapsis (RES); magnetic resonance imaging (MRI)
24.  Microstructural Integrity of the Superior Cerebellar Peduncle Is Associated with an Impaired Proprioceptive Weighting Capacity in Individuals with Non-Specific Low Back Pain 
PLoS ONE  2014;9(6):e100666.
Introduction
Postural control is a complex sensorimotor task that requires an intact network of white matter connections. The ability to weight proprioceptive signals is crucial for postural control. However, research into central processing of proprioceptive signals for postural control is lacking. This is specifically of interest in individuals with non-specific low back pain (NSLBP), because impairments in postural control have been observed as possible underlying mechanisms of NSLBP. Therefore, the objective was to investigate potential differences in sensorimotor white matter microstructure between individuals with NSLBP and healthy controls, and to determine whether the alterations in individuals with NSLBP are associated with the capacity to weight proprioceptive signals for postural control.
Methods
The contribution of proprioceptive signals from the ankle and back muscles to postural control was evaluated by local muscle vibration in 18 individuals with NSLBP and 18 healthy controls. Center of pressure displacement in response to muscle vibration was determined during upright standing on a stable and unstable support surface. Diffusion magnetic resonance imaging was applied to examine whether this proprioceptive contribution was associated with sensorimotor white matter microstructure.
Results
Individuals with NSLBP showed a trend towards a reduced fractional anisotropy along the left superior cerebellar peduncle compared to healthy controls (p = 0.039). The impaired microstructural integrity of the superior cerebellar peduncle in individuals with NSLBP was significantly correlated with the response to ankle muscle vibration (p<0.003).
Conclusions
In individuals with NSLBP, a decreased integrity of the superior cerebellar peduncle was associated with an increased reliance on ankle muscle proprioception, even on unstable support surface, which implies an impaired proprioceptive weighting capacity. Our findings emphasize the importance of the superior cerebellar peduncle in proprioceptive weighting for postural control in individuals with NSLBP.
doi:10.1371/journal.pone.0100666
PMCID: PMC4065054  PMID: 24949796
25.  Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI 
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a cohort of 16 patients with OFD VI. We derived the following inclusion criteria from the literature: 1) MTS and one oral finding and polydactyly, or 2) MTS and more than one typical oral finding. The OFD VI neuroimaging pattern was found to be more severe than in other JSRD subgroups and includes severe hypoplasia of the cerebellar vermis, hypoplastic and dysplastic cerebellar hemispheres, marked enlargement of the posterior fossa, increased retrocerebellar collection of cerebrospinal fluid, abnormal brainstem, and frequently supratentorial abnormalities that occasionally include characteristic hypothalamic hamartomas. Additionally, two new JSRD neuroimaging findings (ascending superior cerebellar peduncles and fused thalami) have been identified. Tongue hamartomas, additional frenula, upper lip notch, and mesoaxial polydactyly are specific findings in OFD VI, while cleft lip/palate and other types of polydactyly of hands and feet are not specific. Involvement of other organs may include ocular findings, particularly colobomas. The majority of the patients have absent motor development and profound cognitive impairment. In OFD VI, normal cognitive functions are possible, but exceptional. Sequencing of known JSRD genes in most patients failed to detect pathogenetic mutations, therefore the genetic basis of OFD VI remains unknown. Compared with other JSRD subgroups, the neurological findings and impairment of motor development and cognitive functions in OFD VI are significantly worse, suggesting a correlation with the more severe neuroimaging findings. Based on the literature and this study we suggest as diagnostic criteria for OFD VI: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma.
doi:10.1186/1750-1172-7-4
PMCID: PMC3313869  PMID: 22236771
Joubert syndrome and related disorders; Oral-facial-digital syndrome type VI; neuroimaging; molar tooth sign; cerebellar malformation

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