Frontal-executive dysfunction in early onset cerebellar ataxia of Holmes' type

Clin Neurol Neurosurg. 2000 Jun;102(2):102-5. doi: 10.1016/s0303-8467(00)00068-8.

Abstract

We report the case of a 29-year-old male patient with cerebellar ataxia of Holmes' type. The combination of progressive cerebellar ataxia and hypogonadotrophic hypogonadism is a rare distinctive syndrome which was first described by Holmes in 1907. Early diagnosis is desirable because replacement of testosterone may allow normal sexual development. MRI showed severe combined superior vermian and cerebellar hemisphere atrophy. Comprehensive neuropsychological testing pointed to a more widespread cerebellar mediated functional CNS involvement in the earlier stages of this ataxic syndrome than previously described in mentally not retarded subjects.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age Factors
  • Atrophy / pathology
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / diagnosis*
  • Cerebellum / pathology
  • Cognition Disorders / complications
  • Cognition Disorders / diagnosis
  • Diagnosis, Differential
  • Disease Progression
  • Frontal Lobe / pathology*
  • Frontal Lobe / physiopathology*
  • Humans
  • Hypogonadism / complications
  • Magnetic Resonance Imaging
  • Male
  • Neuropsychological Tests
  • Reaction Time
  • Severity of Illness Index