| Autor: |
Wang, Jun-Ling, Xiao, Bin, Cui, Xiang-Xiang, Guo, Ji-Feng, Lei, Li-Fang, Song, Xing-Wang, Shen, Lu, Jiang, Hong, Yan, Xin-Xiang, Pan, Qian, Long, Zhi-Gao, Xia, Kun, Tang, Bei-Sha |
| Zdroj: |
Movement Disorders; Oct2009, Vol. 24 Issue 13, p2007-2011, 5p |
| Abstrakt: |
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) [11C]-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. [11C]-CFT PET in detected members in SCA2 and SCA3/MJD families showed decrements of 11C-CFT uptake. These findings suggest that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of PD. © 2009 Movement Disorder Society [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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