Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

Mov Disord. 2005 Dec;20(12):1643-5. doi: 10.1002/mds.20644.

Abstract

Very late-onset Friedreich's ataxia (VLOFA) is characterized by symptomatic onset after 40 years of age and, usually, a benign phenotype. We describe a sporadic case with onset at 53 years of age and a novel VLOFA phenotype mimicking multiple system atrophy (MSA) of cerebellar type associated with minimal GAA1 expansion. We detected several atypical features for a diagnosis of MSA, which should alert to the possibility of an inherited ataxia.

Publication types

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

MeSH terms

  • Age of Onset
  • Aged
  • Cerebellum / pathology*
  • Evoked Potentials, Somatosensory / physiology
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / pathology
  • Friedreich Ataxia / physiopathology
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Membrane Glycoproteins / genetics*
  • Multiple System Atrophy / diagnosis
  • Multiple System Atrophy / etiology*
  • Neural Conduction / physiology
  • Spinal Cord / pathology
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • GPAA1 protein, human
  • Membrane Glycoproteins