Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings

✍ Scribed by Jun-Ling Wang; Bin Xiao; Xiang-Xiang Cui; Ji-Feng Guo; Li-Fang Lei; Xing-Wang Song; Lu Shen; Hong Jiang; Xin-Xiang Yan; Qian Pan; Zhi-Gao Long; Kun Xia; Bei-Sha Tang

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 348 KB
• Volume: 24
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.22727

✦ Synopsis

Abstract

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. © 2009 Movement Disorder Society