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

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...

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Bibliographic Details
Published in:Movement disorders 2009-10, Vol.24 (13), p.2007-2011
Main Authors: 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
Format: Article
Language:English
Subjects:
Adult
Aged
Ataxin-3
Ataxins
Biological and medical sciences
CAG repeat
Carbon Isotopes
China - ethnology
Cocaine - analogs & derivatives
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA Mutational Analysis - methods
Family Health
Female
Humans
mainland China
Male
Medical sciences
Middle Aged
Nerve Tissue Proteins - genetics
Neurology
Nuclear Proteins - genetics
Parkinson Disease - diagnostic imaging
Parkinson Disease - genetics
Parkinson's disease
Positron-Emission Tomography - methods
Repressor Proteins - genetics
SCA2
SCA3/MJD
Trinucleotide Repeat Expansion - genetics
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Summary: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
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.22727