An unusual case of familial ALS and cerebellar ataxia

Amyotroph Lateral Scler. 2010 Dec;11(6):568-70. doi: 10.3109/17482961003636874. Epub 2010 Jun 14.

Abstract

We report a case of familial amyotrophic lateral sclerosis (FALS) with clinical signs of cerebellar and posterior column involvement. The patient's work-up showed a known mutation (E100K) in the gene for Cu/Zn superoxide dismutase 1 (SOD1). Our case illustrates that extramotor symptoms, such as prominent cerebellar signs, can be seen in patients with FALS.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology*
  • Cerebellar Ataxia / diagnosis
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / physiopathology*
  • Female
  • Humans
  • Mutation
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1

Substances

  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1