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1.  PARK2 variability in Polish Parkinson’s disease patients - interaction with mitochondrial haplogroups 
Parkinsonism & related disorders  2012;18(5):520-524.
Aims and objectives
A new pathomechanism of Parkinson’s disease (PD) involving regulation of mitochondrial functions was recently proposed. Parkin complexed with mitochondrial transcription factor A (TFAM) binds mtDNA and promotes mitochondrial biogenesis, which is abolished by PARK2 gene mutations. We have previously shown that mitochondrial haplogroups/clusters and TFAM common variation influenced PD risk. We investigate the role of PARK2 polymorphisms on PD risk and their interactions with mitochondrial haplogroups/clusters as well as with TFAM variability.
Methods
104 early-onset PD patients (EOPD, age at onset ≤ 50 years) were screened for PARK2 coding sequence changes including gene dosage alterations. Three selected PARK2 polymorphisms (S167N, V380L, D394N) were genotyped in 326 PD patients and 315 controls using TaqMan allelic discrimination assay.
Results
PARK2 screen revealed two heterozygous changes in two EOPD patients: exon 2 deletion and one novel synonymous variation (c.999C>A, P333P).
In association study no differences in genotype/allele frequencies of S167N, V380L, D394N were found between analyzed groups. Stratification by mitochondrial clusters revealed higher frequency of V380L G/G genotype and allele G in PD patients, within HV cluster (p=0.040; p=0.022, respectively). Moreover, interaction between genotypes G/G V380L of PARK2 and G/G rs2306604 of TFAM, within HV cluster was significant (OR 2.05; CI 1.04 – 4.04; p=0.038).
Conclusions
Our results indicate that co-occurence of G/G V380L PARK2 and G/G rs2306604 TFAM on the prooxidative HV cluster background can contribute to PD risk. We confirm low PARK2 mutation frequency in Polish EOPD patients.
doi:10.1016/j.parkreldis.2012.01.021
PMCID: PMC3358581  PMID: 22361577
Parkinson’s disease risk factors; PARK2; mitochondrial clusters; mitochondrial transcription factor A (TFAM)
2.  Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research 
PLoS ONE  2012;7(8):e43099.
Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community.
doi:10.1371/journal.pone.0043099
PMCID: PMC3428297  PMID: 22952635
3.  Automatic assessment of the motor state of the Parkinson's disease patient--a case study 
Diagnostic Pathology  2012;7:18.
This paper presents a novel methodology in which the Unified Parkinson's Disease Rating Scale (UPDRS) data processed with a rule-based decision algorithm is used to predict the state of the Parkinson's Disease patients. The research was carried out to investigate whether the advancement of the Parkinson's Disease can be automatically assessed. For this purpose, past and current UPDRS data from 47 subjects were examined. The results show that, among other classifiers, the rough set-based decision algorithm turned out to be most suitable for such automatic assessment.
Virtual slides
The virtual slide(s) for this article can be found here:
http://www.diagnosticpathology.diagnomx.eu/vs/1563339375633634.
doi:10.1186/1746-1596-7-18
PMCID: PMC3313854  PMID: 22340508
Parkinson's disease; UPDRS; Rule-based decision algorithms; Rough sets
4.  Assessing self-awareness of dyskinesias in Parkinson’s disease through movie materials  
Functional Neurology  2011;26(3): 121 - 126 .
Summary
The aim of our study was to determine self-awareness of dyskinesias and other core motor symptoms in Parkinson’s disease (PD) through the use of movie presentations. A scale based on 10 movies (five depicting dyskinesias and five showing core symptoms) and the Self-Assessment Parkinson’s Disease Disability Scale were administered to 21 patients (all with a Mini-Mental State Examination – MMSE score ≥25). Neurological assessment included the Unified Parkinson’s Disease Rating Scale and the Hoehn-Yahr and Schwab-England scales. In addition, the MMSE, Beck Depression Inventory and Stroop task were administered. Overall, patient and caregiver ratings of dyskinesias and core PD symptoms were consistent. Two patients (9%) completely denied dyskinesias, while four patients (19%) significantly underestimated their dyskinesias. Our results confirm that poor self-awareness of symptoms in PD may be selective and that denial of dyskinesias affects only a minority of patients with normal cognitive status (MMSE≥25). Most patients are aware of the presence of dyskinesias. Poor self-awareness of dyskinesias is associated with longer disease duration.
PMCID: PMC3814553  PMID: 22152432
awareness of movement disorders ;  dyskinesias ;  Parkinson’s disease ;  self-awareness

Results 1-4 (4)