Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease

Mov Disord. 2004 Jul;19(7):848-852. doi: 10.1002/mds.20090.

Abstract

We describe an exceptional spinocerebellar ataxia type 2 (SCA2) phenotype combining cerebellar ataxia, levodopa-responsive parkinsonism, and motor neuron symptoms. We conclude that motor neuron symptoms and signs may be a striking manifestation in SCA2, masking pre-existing cerebellar and extrapyramidal semeiology.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Antiparkinson Agents / therapeutic use*
  • Atrophy / pathology
  • Brain Stem / pathology
  • Female
  • Humans
  • Levodopa / therapeutic use*
  • Magnetic Resonance Imaging
  • Middle Aged
  • Motor Neuron Disease / complications
  • Motor Neuron Disease / diagnosis
  • Motor Neuron Disease / genetics*
  • Parkinsonian Disorders / complications
  • Parkinsonian Disorders / drug therapy*
  • Parkinsonian Disorders / genetics*
  • Pedigree
  • Phenotype
  • Spinocerebellar Ataxias / complications
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*

Substances

  • Antiparkinson Agents
  • Levodopa