Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings
| Autor: | Bin Xiao, Xiang-Xiang Cui, Kun Xia, Zhi-gao Long, Xing-Wang Song, Hong Jiang, Lu Shen, Junling Wang, Xinxiang Yan, Lifang Lei, Qian Pan, Jifeng Guo, Beisha Tang |
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| Rok vydání: | 2009 |
| Předmět: |
Oncology
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Parkinson's disease medicine.diagnostic_test business.industry Triplet repeat Locus (genetics) medicine.disease Central nervous system disease Degenerative disease Neurology Positron emission tomography Internal medicine Cohort medicine Spinocerebellar ataxia Neurology (clinical) business |
| Zdroj: | Movement Disorders. 24:2007-2011 |
| ISSN: | 0885-3185 |
| DOI: | 10.1002/mds.22727 |
| Popis: | To investigate the prevalence and clinical feature(s) of Parkinson's disease (PD) patients with expanded (ATXN2 and MJD1) genes of spinocerebellar ataxia type 2 and 3 (SCA2 and SCA3/MJD) in a mainland Chinese population, CAG triplet repeat expansions of (SCA2 and SCA3/MJD) genes (ATXN2 and MJD1) were analyzed in a cohort of 452 PD patients, including 386 sporadic and 66 familial forms. Striatal dopamine transporter was evaluated in two SCA2 and two SCA3/MJD-positive family members, an idiopathic PD patient and a healthy control using carbon (C11) [(11)C]-radiolabeled-CFT positron emission tomography (PET). We found two patients in one familial PD (FPD) family (1.5%) and two sporadic PD patients (0.5%) with expanded CAG repeats in the ATXN2 locus, four patients in two FPD families (3%) and another three sporadic PD patients (0.8%) in the MJD1 locus. [(11)C]-CFT PET in detected members in SCA2 and SCA3/MJD families showed decrements of (11)C-CFT uptake. These findings suggest that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of PD. |
| Databáze: | OpenAIRE |
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