Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism

Ann Neurol. 2001 Dec;50(6):812-5. doi: 10.1002/ana.10055.

Abstract

A genetic analysis identified 2 patients, approximately one-tenth of our patients with familial parkinsonism, who had expanded trinucleotide repeats in SCA2 genes. The reduction of 18F-dopa distribution in both the putamen and caudate nuclei confirmed that the nigrostriatal dopaminergic system was involved in parkinsonian patients with SCA2 mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Ataxins
  • Brain / diagnostic imaging
  • Brain / metabolism
  • Brain / physiopathology
  • China
  • Female
  • Fluorine Radioisotopes / metabolism
  • Gait
  • Humans
  • Levodopa / analogs & derivatives
  • Levodopa / metabolism*
  • Male
  • Middle Aged
  • Nerve Tissue Proteins
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / drug therapy
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / physiopathology
  • Pedigree
  • Proteins / genetics*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / physiopathology
  • Tomography, Emission-Computed
  • Trinucleotide Repeats / genetics*

Substances

  • Ataxins
  • Fluorine Radioisotopes
  • Nerve Tissue Proteins
  • Proteins
  • Levodopa