Familial cerebellar ataxia and hypogonadism associated with sensorimotor axonal polyneuropathy

Clin Neurol Neurosurg. 2000 Sep;102(3):129-34. doi: 10.1016/s0303-8467(00)00077-9.

Abstract

In this article, we report two siblings who have familial cerebellar ataxia and hypogonadism associated with sensorimotor axonal polyneuropathy documented by light microscopy. This combination has not been reported previously in the literature. Cerebellar ataxia and hypogonadism is reviewed according to the clinical and laboratory features of the reported cases in the literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Atrophy
  • Cerebellar Ataxia / blood
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / pathology
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology
  • Consanguinity
  • Gonadotropins, Pituitary / blood
  • Hereditary Sensory and Motor Neuropathy / blood
  • Hereditary Sensory and Motor Neuropathy / complications*
  • Hereditary Sensory and Motor Neuropathy / genetics
  • Hereditary Sensory and Motor Neuropathy / pathology
  • Humans
  • Hypogonadism / blood
  • Hypogonadism / genetics*
  • Hypogonadism / pathology
  • Male
  • Pedigree
  • Sural Nerve / pathology
  • Syndrome
  • Testosterone / blood
  • Tomography, X-Ray Computed

Substances

  • Gonadotropins, Pituitary
  • Testosterone