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

Mov Disord. 2009 Oct 15;24(13):2007-11. doi: 10.1002/mds.22727.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Ataxin-3
  • Ataxins
  • Carbon Isotopes
  • China / ethnology
  • Cocaine / analogs & derivatives
  • DNA Mutational Analysis / methods
  • Family Health
  • Female
  • Humans
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Parkinson Disease / diagnostic imaging*
  • Parkinson Disease / genetics*
  • Positron-Emission Tomography / methods
  • Repressor Proteins / genetics*
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • Ataxins
  • Carbon Isotopes
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • (1R-(exo,exo))-3-(4-fluorophenyl)-8-methyl-8- azabicyclo(3.2.1)octane-2-carboxylic acid, methyl ester
  • ATXN3 protein, human
  • Ataxin-3
  • Cocaine