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1.  Anti-Glutamate ∊2 Receptor Antibody-Positive and Anti-N-Methyl-D-Aspartate Receptor Antibody-Negative Lobar Encephalitis Presenting as Global Aphasia and Swallowing Apraxia 
Case Reports in Neurology  2014;6(3):291-296.
Little is known about the difference between anti-N-methyl-D-aspartate receptor (NMDAR) antibody-positive encephalitis and anti-glutamate receptor (GluR) antibody-positive encephalitis.
To characterize anti-GluR antibody-positive encephalitis.
We report a 33-year-old man with nonparaneoplastic anti-GluR ∊2, ζ1 and δ2 antibody-positive and anti-NMDAR antibody-negative encephalitis, using neuropsychological tests and imaging studies including magnetic resonance imaging and single photon emission computed tomography (SPECT) with a 99mTc-ethylcysteinate dimer.
The patient exhibited global aphasia and swallowing apraxia (inability to transfer food to the pharyngeal cavity without sialorrhea). He was treated with 3 courses of corticosteroid pulse therapy and had recovered markedly 3 weeks after onset. Magnetic resonance diffusion-weighted images revealed hyperintensity in the bilateral frontal and left parietal cortices. Seven months later, a small area of hyperintensity in the left supramarginal gyrus remained. SPECT revealed hypoperfusion in extensive regions of the bilateral frontal lobes and left supramarginal gyrus. Thirteen months later, blood flow reduction was restricted to diffuse areas in the frontal lobes.
Frontal lobar encephalitis without medial temporal involvement, marked cognitive impairment with a relatively preserved level of consciousness, and a favorable response to corticosteroid therapy, with nearly reversible cortical damage, may characterize anti-GluR antibody-positive encephalitis.
PMCID: PMC4307010
Anti-glutamate receptor antibodies; Aphasia; Lobar encephalitis; N-methyl-D-aspartate receptor encephalitis; Swallowing apraxia
2.  Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy 
Case Reports in Neurology  2014;6(3):281-286.
It is generally regarded that patients with hereditary neuropathy to pressure palsies, due to a deletion in the PMP22 gene, show recurrent pressure palsy and generalised peripheral neuropathy (pes cavus and hammer toes sometimes develop). Brachial plexopathy is rarely identified as a first presentation of hereditary neuropathy to pressure palsies. We describe a young man who developed a painless flail upper limb with a clinical diagnosis of a brachial plexopathy after his partner slept on his arm – a PMP22 deletion was found. His father, who had a symmetrical polyneuropathy without recurrent mononeuropathies, shared the PMP22 deletion.
PMCID: PMC4296227
Lover's palsy; Hereditary neuropathy; Pressure palsy; Brachial plexopathy
3.  Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia 
Case Reports in Neurology  2014;6(3):287-290.
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Onset is usually in the first or second decade of life; however, late-onset cases of Freidreich ataxia (LOFA), after the age of 25 years, and very late-onset cases of Freidreich ataxia (VLOFA), after the age of 40 years, have been reported. VLOFA is quite rare and usually presents a milder progression of the disease. We report the case of a 64-year-old woman affected with VLOFA whose first symptoms (balance and gait disturbances) occurred at the age of 44 years. At the age of 62 years, she started complaining of a slowly progressive dysphonia showing the clinical aspects of laryngeal dystonia. Molecular analysis showed a 210- and 230-trinucleotide GAA repeat expansion in the two alleles of the FXN gene. Laryngeal dystonia has been reported only in very few cases of ataxia syndrome and never before in FRDA patients. It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA.
PMCID: PMC4296233
Autosomal recessive neurodegenerative disorder; Friedreich ataxia; Laryngeal dystonia
4.  Akinetic Crisis in Parkinson's Disease Is Associated with a Severe Loss of Striatal Dopamine Transporter Function: A Report of Two Cases 
Case Reports in Neurology  2014;6(3):275-280.
Akinetic crisis or acute akinesia is a life-threatening complication of Parkinson's disease (PD) with unknown pathophysiological mechanisms. Clinically, it resembles the neuroleptic malignant syndrome, and dopaminergic drugs are transiently ineffective in the acute phase of the condition. There are no published dopaminergic functional imaging studies on PD patients with akinetic crisis. Here we report 2 advanced PD patients with akinetic crisis who were scanned with SPECT using brain dopamine transporter ligand [123I]FP-CIT. The first patient was additionally scanned before the condition developed, and the second patient was scanned after recovery. Striatal dopamine transporter binding was lower during than before the crisis, and both patients showed a nearly complete loss of dopamine transporter binding during the crisis. Serial imaging showed that the uptake remained negligible despite an improvement in motor function after recovery. Akinetic crisis in PD appears to be associated with a particularly severe loss of presynaptic striatal dopamine function that does not improve after recovery. Apart from presynaptic dopaminergic function, other dopaminergic or nondopaminergic mechanisms are involved in the clinical improvement of motor functions after akinetic crisis in PD.
PMCID: PMC4280458  PMID: 25566059
Parkinson's disease; Dopamine transporter; SPECT; Akinesia
5.  Stroke as the First Clinical Manifestation of Takayasu's Arteritis 
Case Reports in Neurology  2014;6(3):271-274.
Takayasu's arteritis is a chronic inflammatory disease, and neurological symptoms occur in 50% of cases, most commonly including headache, dizziness, visual disturbances, convulsive crisis, transient ischemic attack, stroke and posterior reversible encephalopathy syndrome. The aim of this study was to report the case of a young Brazilian female with a focal neurological deficit. She presented with asymmetry of brachial and radial pulses, aphasia, dysarthria and right hemiplegia. Stroke was investigated extensively in this young patient. Only nonspecific inflammatory markers such as velocity of hemosedimentation and C-reactive protein were elevated. During hospitalization, clinical treatment was performed with pulse therapy showing improvement in neurological recuperation on subsequent days. In the chronic phase, the patient was submitted to medicated angioplasty of the brachiocephalic trunk with paclitaxel, with significant improvement of the stenosis. At the 6-month follow-up, the neurological exam presented mild dysarthria, faciobrachial predominant disproportionate hemiparesis, an NIHSS score of 4 and a modified Rankin Scale score of 3 (moderate incapacity). In conclusion, Takayasu's arteritis must be recognized as a potential cause of ischemic stroke in young females.
PMCID: PMC4280462  PMID: 25566058
Takayasu's arteritis; Ischemic stroke; Vasculitis of the central nervous system
6.  GAD Antibody-Associated Late-Onset Cerebellar Ataxia in Two Female Siblings 
Case Reports in Neurology  2014;6(3):264-270.
Anti-glutamic acid decarboxylase antibody (GAD-ab)-associated cerebellar ataxia is a rare neurological disorder characterized by cerebellar symptoms concomitant with high GAD-ab levels in serum and cerebrospinal fluid (CSF).
Case Report
We report on 2 female siblings (aged 74 and 76 years) presenting with gradual progression of rotational vertigo, gait ataxia and vertical diplopia, continuously progressing for 6 months and 6 years, respectively. Autoimmune laboratory examinations showed remarkably increased serum and CSF GAD-ab levels. Their medical histories revealed late-onset type 1 diabetes mellitus (T1DM) and other concomitant autoimmune disorders (Grave's disease, Hashimoto's thyroiditis). Cerebral MRI and laboratory examinations were unremarkable. The diagnosis of GAD-ab-associated cerebellar ataxia with particular brainstem involvement was established in both women. After the exclusion of an underlying malignancy, immunosuppressive therapy has been initiated in both patients, which resulted in stabilization in one and in clinical improvement in the other patient.
The unique association of autoantibody-mediated cerebellar ataxia and late-onset T1DM in 2 siblings with similar clinical and paraclinical phenotypes strengthens the concept that hereditary factors might play a relevant role also in autoimmune diseases so far considered to be sporadic. Moreover, the occurrence of continuous vertical diplopia broadens the clinical spectrum of GAD-ab-associated neurological syndromes.
PMCID: PMC4280469  PMID: 25566057
Autoantibodies; Autoimmunity; GAD; Anti-GAD65; Anti-GAD antibody; Cerebellar ataxia
7.  Expect the Unexpected: A Case of Isolated Eosinophilic Meningitis in Toxocariasis 
Case Reports in Neurology  2014;6(3):259-263.
We present the case of a young police officer suffering from headache without other neurological symptoms caused by isolated eosinophilic meningitis, which resulted from an infection with Toxocara cati, along with a discussion of the differential diagnosis.
PMCID: PMC4265852  PMID: 25535488
Eosinophilic meningitis; Toxocariasis; Parasitic zoonosis
8.  Profound Amnesia after Temporal Lobectomy: An Autoimmune Process Resembling Patient H.M.? 
Case Reports in Neurology  2014;6(3):251-255.
We describe a patient who developed significant cognitive decline with profound amnesia following non-dominant temporal lobectomy for refractory seizures, in whom the original suspicion of structural pathology was revised following the discovery of clinical and neuropathological markers of inflammation, neuropsychological evidence of bilateral involvement, and high titres of antibodies directed against glutamic acid decarboxylase (GAD). This case adds to the evidence that the diagnosis of non-paraneoplastic anti-GAD limbic encephalitis merits consideration in any patient with a refractory seizure disorder and cognitive decline.
PMCID: PMC4249997  PMID: 25473398
Amnesia; Epilepsy; Glutamic acid decarboxylase; Limbic encephalitis; Temporal lobectomy
9.  Midbrain Hypometabolism in Fatal Familial Insomnia: A Case Report and a Statistical Parametric Mapping Analysis of a Korean Family 
Case Reports in Neurology  2014;6(3):243-250.
Background and Methods
Fatal familial insomnia (FFI) is a rare genetic disease characterized by intractable insomnia, dysautonomia, and dementia. Herein we describe a patient with FFI. In order to study brain glucose hypometabolism in the patient, we used statistical parametric mapping (SPM) analysis of [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET).
Case Report
The patient was a 34-year-old Korean man. He presented with intractable insomnia, rapidly progressive dementia and autonomic disturbances. A comprehensive clinical investigation was conducted, including brain MRI, electroencephalography, polysomnography, neuropsychological tests, FDG-PET and genomic tests. SPM analysis was performed using 7 healthy controls. Direct sequencing of the PRNP gene identified a heterozygous p. Asp179Asn mutation homozygous for methionine at codon 129 and for glutamate at codon 219. The results of the SPM analysis showed marked hypometabolism in the deep cerebral nuclei (including the bilateral thalami, caudate nuclei, and hypothalamus), association cortices (including the frontal, lateral temporal, inferior parietal lobule and posterior cingulate gyri), and midbrain.
This is the first Korean report of FFI, in which the family showed male phenotypic predominance. The patient's SPM analysis demonstrated brain hypometabolism in the midbrain and the hypothalamus, as well as the thalami, caudate nuclei, and multiple cortical regions. These results contribute further to the overall understanding of the pathophysiology of FFI.
PMCID: PMC4250000  PMID: 25473397
Fatal familial insomnia; Glucose hypometabolism; Statistical parametric mapping analysis
10.  Intravenous Tissue Plasminogen Activator for an Ischemic Stroke with Occult Double Primary Cancer 
Case Reports in Neurology  2014;6(3):238-242.
In patients with advanced-stage cancer, systemic thrombolysis with tissue plasminogen activator (tPA) for hyperacute ischemic stroke is not strictly off-label, but it is at higher risk of complications (including bleeding).
Case Report
A 71-year-old male with unrecognizable malignancy developed a hemispheric ischemic stroke and received intra-venous tPA within 4.5 h of onset, followed by anticoagulation treatment after 24 h of throm-bolysis. Two days later, the patient had tarry stool and progressive anemia, receiving a blood transfusion. The systemic workup documented the presence of double primary cancers with advanced stage gastric and rectal cancers, and the patient subsequently received palliative care. The outcome at 3 months was a modified Rankin Scale of 5, and the patient died 6 months after the stroke.
Although systemic thrombolysis with tPA for ischemic stroke in patients with advanced-stage cancer may be performed relatively safely, optimal post-thrombolysis management is important to prevent the complications.
PMCID: PMC4249998  PMID: 25473396
Cancer; Ischemic stroke; Stroke; Thrombolysis
11.  Deep Brain Stimulation in Multiple System Atrophy Mimicking Idiopathic Parkinson's Disease 
Case Reports in Neurology  2014;6(3):232-237.
Deep brain stimulation (DBS) is approved for idiopathic Parkinson's disease (IPD) but has a poor evidence base in Parkinson-plus syndromes such as multiple system atrophy (MSA). We describe the clinical and neuropathological findings in a man who was initially diagnosed with IPD, in whom DBS was unsuccessful, and in whom MSA was unexpectedly diagnosed at a subsequent autopsy. This case report highlights that DBS is often unsuccessful in MSA and also demonstrates that MSA can masquerade as IPD, which may explain treatment failure in a small group of patients apparently suffering from Parkinson's disease. Additionally, it also presents a case with an unusually long duration of disease prior to death, comparable only to a handful of other cases in the literature.
PMCID: PMC4250004  PMID: 25473395
Deep brain stimulation; Multiple system atrophy; Idiopathic Parkinson's disease
12.  A Case of Neuromyelitis Optica Masquerading as Miller Fisher Syndrome 
Case Reports in Neurology  2014;6(3):226-231.
A 22-year-old woman presented with double vision that she had experienced since an infection 2 weeks previously. A neurological examination showed limited bilateral eye abduction, mimicking Miller Fisher syndrome. However, T2-weighted magnetic resonance imaging of her brain revealed hyperintense areas in the tegmentum of the pons, including the abducens nucleus, and her serum anti-aquaporin-4 antibody test was positive. She was finally diagnosed with neuromyelitis optica. Intravenous high-dose steroid therapy immediately improved the patient's abduction palsy, but bilateral optic neuritis manifested during the treatment. Subsequent treatment with plasma exchange improved her optic neuritis symptoms.
PMCID: PMC4224235  PMID: 25408664
Neuromyelitis optica; Abduction palsy; Optic neuritis; Miller Fisher syndrome
13.  Eyelid Tremor in a Patient with Anti-Caspr2 Antibody-Related Encephalitis 
Case Reports in Neurology  2014;6(2):222-225.
We describe the first case of a patient with eyelid tremor probably associated with anti-contactin-associated protein-like 2 (Caspr2) antibody. Encephalitis associated with anti-voltage-gated potassium channel antibody is now attributed to autoantibodies against leucine-rich glioma inactivated 1 (Lgi1) and less frequently against Caspr2. Eyelid tremor or blepharoclonus is a rare or underdiagnosed involuntary movement that has been found in patients with infarction in the thalamus or drug-induced or idiopathic parkinsonism. Since patients with anti-Caspr2 antibody-related encephalitis occasionally have extrapyramidal signs, we speculate that the eyelid tremor was also caused by anti-Caspr2 antibody in our patient. Partial resolution of his symptoms by plasmapheresis also supported the involvement in immunological processes.
PMCID: PMC4176401  PMID: 25298769
Eyelid tremor; Blepharoclonus; Anti-Caspr2 antibody-related encephalitis
14.  Persistent Aura with Small Occipital Cortical Infarction: Implications for Migraine Pathophysiology 
Case Reports in Neurology  2014;6(2):217-221.
The pathophysiology of migraine with aura is thought to be related to cortical spreading depression and cortical hypersensitivity, in which inhibitory interneurons may play a role. Persistent migraine aura (PMA) without infarction is defined as auras that last longer than 1 week in the absence of infarction. We describe a case of persistent aura with a small occipital cortical infarction and discuss implications of this case and PMA for pathophysiological concepts of migrainous auras.
We present a case and discuss the implications for pathophysiological concepts.
The case presented cannot be diagnosed as PMA as the patient was found to have an occipital cortical infarction with hypoactivity on fluorodeoxyglucose-positron emission tomography. Nevertheless, the patient suffered from persistent aura (with infarction). We argue that the infarction may have been responsible for an increased imbalance in one of the primary visual cortex networks that was already hyperexcitable due to the migraine aura condition.
PMA with occipital infarction has not been reported previously. We believe the findings of the present case and PMA cases reported in the past may support the intracortical disinhibition hypothesis in migraine.
PMCID: PMC4176405  PMID: 25298768
Migraine with aura; Persistent migraine aura; Inhibitory GABAergic network cells; Cortical hyperexcitability; Intracortical disinhibition hypothesis
15.  Amyotrophic Lateral Sclerosis Presenting Respiratory Failure as the Sole Initial Manifestation 
Case Reports in Neurology  2014;6(2):213-216.
It is rare that amyotrophic lateral sclerosis (ALS) presents with respiratory failure as the sole initial manifestation. A 72-year-old man with mild chronic obstructive pulmonary disease developed exertional dyspnea for 13 months. He then progressed to limb weakness that led to the diagnosis of ALS. Although rare, ALS can present with respiratory failure as the sole initial manifestation more than 1 year prior to limb weakness.
PMCID: PMC4164067  PMID: 25232334
Amyotrophic lateral sclerosis; Respiratory failure; Chronic obstructive pulmonary disease
16.  Regression of Dural Arteriovenous Fistulae after Venous Flow Reconstructive Surgery in a Case with Hemangiopericytoma at the Confluence of Sinuses 
Case Reports in Neurology  2014;6(2):207-212.
The mechanism by which acquired dural arteriovenous fistula (dAVF) develops is still unclear. Few cases have been reported with both dAVF and intracranial tumors, and in these few cases the authors have proposed that induced venous hypertension may lead to the pathogenesis of dAVF. We experienced a case of intrasinusoidal hemangiopericytoma (HPC) with dAVF development. In addition to its rare pathology and tumor location, this case showed regression of dAVF immediately after tumor removal.
Case Report
The patient was a 23-year-old man who developed progressively worse headaches and papilledema. The HPC was located entirely inside the confluence of the sinuses (CoS) and resulted in venous sinus occlusion. Cerebral angiography demonstrated a dAVF located in the straight sinus, upstream of the occluded CoS, which was fed by the dural branch of the posterior cerebral artery. After the endovascular embolization of the tumor feeders, subsequent surgery included venous reconstruction in addition to tumor excision. Although the dAVF was not treated with an endovascular procedure or surgery, postoperative angiography revealed complete disappearance of the dAVF.
We conclude that venous reconstructive surgery greatly contributed to the immediate regression of the dAVF. When planning the treatment strategy for such cases, it should be remembered that acquired dAVF may regress due to the normalization of venous hypertension.
PMCID: PMC4164082  PMID: 25232333
Confluence of sinuses; Dural arteriovenous fistula; Hemangiopericytoma; Sinus occlusion; Venous hypertension; Venous reconstructive surgery
17.  Gradenigo Syndrome: Unusual Consequence of Otitis Media 
Case Reports in Neurology  2014;6(2):197-201.
In 1904, Giuseppe Gradenigo published his case series on the triad of ipsilateral abducens nerve palsy, facial pain in the trigeminal nerve distribution, and suppurative otitis media, which would subsequently be referred to as Gradenigo syndrome.
Case Report
Our patient was a 36-year-old female, 23 weeks pregnant, with a 6-day history of right-sided otalgia and hearing loss and a 4-day history of purulent otorrhea, who presented with severe, holocephalic headache, meningeal signs, fever, photophobia, and mental status decline. Lumbar puncture yielded a white blood cell count of 1,559 cells/mm3 with 95% polymorphonuclear leukocytes, a red blood cell count of 111 cells/mm3, a protein level of 61 mg/dl, and a glucose level of <40 mg/dl. Cerebrospinal fluid Gram stain showed Gram-positive diplococci, which were subsequently identified as Streptococcus pneumoniae and treated with ceftriaxone. On the second hospital day, she developed horizontal diplopia due to right abducens nerve palsy and right mydriasis. Both symptoms resolved on the third hospital day. Erosion of temporal bone and opacification of mastoid air cells was shown on CT scan. A CT venogram showed an irregularity of the left transverse and superior sagittal sinuses. She was treated with enoxaparin for possible sinus thrombosis.
This case demonstrates rare but serious sequelae of otitis media and Gradenigo syndrome. Holocephalic headache from meningitis masked trigeminal pain. Involvement of the ipsilateral petrous apex and surrounding structures on imaging and clinical improvement with antibiotic treatment supports Gradenigo syndrome over intracranial hypertension due to venous sinus thrombosis as the cause of the abducens nerve palsy.
PMCID: PMC4164058  PMID: 25232331
Gradenigo syndrome; Otitis media; Mastoiditis; Apical petrositis; Meningitis
18.  Motor Branch Biopsy of the Pronator Teres Muscle in a Patient with Painful Forearm Neuropathy 
Case Reports in Neurology  2014;6(2):202-206.
Histological evaluation of a peripheral nerve is often the final diagnostic work-up for a neuropathy of unknown origin, and a distal sensory nerve is usually biopsied. Here, we report the case of a female patient with painful unilateral neuropathy in the upper arm. According to the histological evaluation of the pronator teres motor branch, vasculitis seemed to be the most probable cause of the condition, and steroid therapy improved the patients’ symptoms. A biopsy of the motor branch of the pronator teres muscle nerve may be considered a valuable diagnostic option in selected cases with neuropathy affecting the upper limb, when performed in cooperation with neurologists and orthopedic surgeons.
PMCID: PMC4164103  PMID: 25232332
Motor nerve branch biopsy; Multiple mononeuropathy; Muscle biopsy; Nerve biopsy; Painful neuropathy; Pronator teres
19.  Isolated Gait Ataxia as a Sole Manifestation of Right Lateral Medullary Infarct following Ipsilateral Trigeminal Herpes Zoster 
Case Reports in Neurology  2014;6(2):193-196.
Cerebral infarct related to varicella-zoster virus (VZV) has been reported in the literature. In addition, lateral medullary infarct (LMI) can be manifested rarely as isolated gait ataxia without other characteristic symptoms.
Case Report
A 70-year-old female was admitted to our hospital because of herpes zoster on the right trigeminal nerve distribution. On the 15th hospital day, she developed sudden vertigo and fine left-beating nystagmus with axial lateropulsion to the right side, without the other usual signs of LMI (Horner syndrome, dysarthria, swallowing difficulty or hemibody sensory change). Brain MRI showed a small infarct in the far dorsolateral portion of the right rostral medulla and pontomedullary junction. Cerebrospinal fluid study showed a positive VZV IgG antibody.
We reported a case of isolated gait ataxia as the sole manifestation of right LMI following herpes zoster on the right trigeminal distribution. A high index of clinical suspicion for concomitant central nervous system complication is necessary in patients with herpes zoster, although the concomitant neurologic symptom may be mild or less lateralized.
PMCID: PMC4105956  PMID: 25076896
Herpes zoster; Stroke; Lateral medullary infarct; Vasculopathy
20.  Spinal Cord Infarction and Patent Foramen Ovale: Is There a Link? 
Case Reports in Neurology  2014;6(2):188-192.
Spinal cord infarction (SCI) is an uncommon but important cause of acute myelopathy. Nevertheless, contrary to cerebral stroke, the discussion about paradoxical embolism as a cause of cryptogenic SCI remains dubious. We describe the case of a 24-year-old woman who developed sudden-onset back pain followed by upper limb paralysis. T2-weighted MRI demonstrated hyperintense signal, extending from C5 to D1 with corresponding restricted diffusion on diffusion-weighted MRI and reduction of the apparent diffusion coefficient. Diagnostic workup, including lumbar puncture, showed no changes. Transcranial Doppler showed a right-to-left shunt with an uncountable number of microembolic signals after Valsalva maneuvers, and a patent foramen ovale (PFO) with an atrial septum aneurysm was identified. We discuss the paucity of evidence of right-to-left shunting in spinal diseases compared to cerebral events and the potential role of paradoxical embolism through PFO as a possible mechanism of SCI.
PMCID: PMC4105946  PMID: 25076895
Spinal cord infarction; Stroke; Patent foramen ovale; Right-to-left shunting; Atrial septal aneurysm
21.  Estrogen Intake and Copper Depositions: Implications for Alzheimer's Disease? 
Case Reports in Neurology  2014;6(2):181-187.
We present a patient with chronic postmenopausal estrogen intake with presence of Kayser-Fleischer ring in the cornea and Alzheimer's disease and discuss the pathophysiological mechanisms of estrogen intake and copper accumulation in various tissues, including the central nervous system. Sonography was compatible with copper accumulation in the basal ganglia, but the patient showed no clinical signs of Wilson's disease. Magnetic resonance imaging and positron emission tomography revealed a typical pattern for Alzheimer's disease. We propose increased copper levels as a direct effect of estrogen intake due to an augmented ATP7A-mRNA in the intestine. Moreover, we discuss the impact of elevated free serum copper on accompanying Alzheimer's disease, knowing that copper plays a crucial role in the formation of amyloid plaques and tau aggregation. This might offer a partial explanation for the observation that postmenopausal estrogen therapy is associated with a higher risk of mild cognitive impairment and Alzheimer's disease.
PMCID: PMC4105953  PMID: 25076894
[11C]PIB PET; Alzheimer's disease; Ceruloplasmin; Copper; Estrogen
22.  Neuronal Intranuclear Inclusion Disease Presenting with Resting Tremor 
Case Reports in Neurology  2014;6(2):176-180.
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with various neurological symptoms. A 73-year-old woman presented with slowly progressive tremor in both hands. The resting tremor was enhanced by cognitive activity and walking. However, there were no other signs of parkinsonism. Levodopa and trihexyphenidyl were ineffective against the tremor. A diagnosis of NIID was made based on skin biopsy findings. The tremor in this case was very similar to that seen in Parkinson's disease (PD). Previous reports and the present case indicate that NIID patients can develop tremor that is similar in character to that seen in PD. NIID should be considered in the differential diagnosis of resting tremor similar to PD.
PMCID: PMC4067726  PMID: 24987362
Neuronal intranuclear inclusion disease; Tremor; Skin biopsy
23.  Successful Removal of a Metastatic Gastrointestinal Stromal Tumor in the Craniovertebral Junction using an Occipital Artery to Posterior Inferior Cerebellar Artery Bypass 
Case Reports in Neurology  2014;6(2):139-143.
Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms arising from the gastrointestinal tract. The authors present a case of the successful removal of a metastatic GIST in the craniovertebral junction, using an occipital artery to posterior inferior cerebellar artery (OA-PICA) bypass. The patient is a 54-year-old male who underwent his first surgery for a small-bowel tumor at the age of 45 and was diagnosed with GIST. Nine years after his primary diagnosis, the patient suffered from severe neck pain. MRI demonstrated a large demarcated mass adjacent to the right atlas. The right vertebral artery (VA), completely engulfed by the tumor, showed a narrowing and ended in the PICA. Poor collateral blood supply in the right PICA territory was presumed. To prevent ischemic complications, an OA-PICA bypass was performed prior to the tumor resection. After the OA-PICA bypass, the tumor associated with the right VA was successfully removed, and the patient was discharged without any neurological deficits.
PMCID: PMC4067717  PMID: 24987360
Craniovertebral junction; Gastrointestinal stromal tumor; Metastasis; Occipital artery to posterior inferior cerebellar artery bypass; Prophylactic vascular reconstruction; Tumor resection
24.  Recurrence of Susac Syndrome following 23 Years of Remission 
Case Reports in Neurology  2014;6(2):171-175.
Susac syndrome is an autoimmune microangiopathy affecting the brain, retina and inner ear (cochlea and semicircular canals), leading to encephalopathy, branch retinal artery occlusions (BRAOs) and asymmetric neurosensory hearing loss, respectively. The natural history and long-term prognosis are variable as the disease has been shown to be monophasic and self-limiting, polycyclic or chronic continuous. We describe a 35-year-old woman who presented with a sudden hearing loss in the left ear in the 37th week of her second pregnancy. She subsequently developed BRAO in the right eye 2.5 months after having given birth. MRI findings included round lesions in the corpus callosum which are pathognomonic for Susac syndrome. Previous patient records documented encephalopathy, sudden deafness of the right ear and visual field defects in the left eye at the age of 12, followed by permanent hearing and visual defects. We expand on the variability in the course of Susac syndrome as recurrence may occur after as long as 23 years. Cases of monophasic self-limiting Susac syndrome may in fact turn polycyclic with an interval of more than 2 decades between the bouts of the disease. In these cases, suspecting the development of exacerbation early is important in order to start the treatment promptly.
PMCID: PMC4067733  PMID: 24987361
Branched retinal artery occlusion; Corpus callosum; Encephalopathy; Hearing loss; Recurrence; Retinal vasculopathy; Susac syndrome; Visual loss
25.  Steroid-Responsive Epilepsia Partialis Continua with Anti-Thyroid Antibodies: A Spectrum of Hashimoto's Encephalopathy? 
Case Reports in Neurology  2014;6(2):166-170.
When a neuropsychiatric symptom due to encephalopathy develops in a patient with anti-thyroid antibodies, especially when the symptom is steroid-responsive, Hashimoto's encephalopathy (HE) needs to be included in the differential diagnosis of the patient. Although HE is an elusive disease, it is thought to cause various clinical presentations including seizures, myoclonus, and epilepsia partialis continua (EPC).
Case Report
We present the case of a 33-year-old Japanese woman who acutely developed EPC in the right hand as an isolated manifestation. A thyroid ultrasound showed an enlarged hypoechogenic gland, and a thyroid status assessment showed euthyroid with high titers of thyroid antibodies. A brain MRI revealed a nodular lesion in the left precentral gyrus. Corticosteroid treatment resulted in a cessation of the symptom.
A precentral nodular lesion can be responsible for steroid-responsive EPC in a patient with anti-thyroid antibodies and may be caused by HE. The serial MRI findings of our case suggest the presence of primary demyelination, with ischemia possibly due to vasculitis around the demyelinating lesion.
PMCID: PMC4049019  PMID: 24932178
Hashimoto's encephalopathy; Epilepsia partialis continua; Vasculitis; Demyelination; MRI; Hashimoto's disease

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