Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member

Clin Neurol Neurosurg. 1999 Dec;101(4):253-5. doi: 10.1016/s0303-8467(99)00051-7.

Abstract

Early onset cerebellar ataxia with retained tendon reflexes (EOCA) is a clinical syndrome characterised by progressive cerebellar ataxia with an onset before the age of 25 years and a wide spectrum of associated features. It is distinguished from Friedreich's ataxia (FA) mainly by the preservation of tendon reflexes, a better prognosis, and the absence of GAA expansion in the frataxin gene. Although EOCA is thought to be a hereditary disorder with an autosomal recessive mode of inheritance, genetic heterogeneity might underlie the spectrum of clinical features. In this case report we describe a patient with EOCA accompanied by pes cavus, hammer toes and peripheral neuropathy. The patient's father did not have any ataxia, but had the same foot deformities as his daughter and a slight peripheral neuropathy. The possible relationship between these clinical features is discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Cerebellar Ataxia / complications*
  • Female
  • Foot Deformities, Acquired / etiology*
  • Foot Deformities, Acquired / physiopathology
  • Gait
  • Humans
  • Reflex, Stretch*