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) 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.
Wang
Jun-Ling
JL
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Xiao
Bin
B
Cui
Xiang-Xiang
XX
Guo
Ji-Feng
JF
Lei
Li-Fang
LF
Song
Xing-Wang
XW
Shen
Lu
L
Jiang
Hong
H
Yan
Xin-Xiang
XX
Pan
Qian
Q
Long
Zhi-Gao
ZG
Xia
Kun
K
Tang
Bei-Sha
BS
D000328:Adult; D000368:Aged; D000067699:Ataxin-3; D000067528:Ataxins; D002247:Carbon Isotopes; D002681:China / Q000208:ethnology; D003042:Cocaine / Q000031:analogs & derivatives; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000000981:diagnostic imaging* / Q000235:genetics*; D049268:Positron-Emission Tomography / Q000379:methods; D012097:Repressor Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D000067528:Ataxins; D002247:Carbon Isotopes; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C021279:(1R-(exo,exo))-3-(4-fluorophenyl)-8-methyl-8- azabicyclo(3.2.1)octane-2-carboxylic acid, methyl ester; C092341:ATXN3 protein, human; D000067699:Ataxin-3; D003042:Cocaine