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Chorea-acanthocytosis: report of a family and neuropathological study of two cases

M E Alonso1, F Teixeira, G Jimenez

  • 1Department of Genetics, National Institute of Neurology and Neurosurgery, Mexico, D.F.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|November 1, 1989
PubMed

Insights

This study details a rare, progressive neurological disorder in siblings, marked by chorea and leading to death in midlife. Autosomal recessive inheritance is suspected for this neurodegenerative condition.

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Progressive neurological illnesses can manifest in midlife.
  • Chorea is a key symptom in certain neurodegenerative disorders.
  • Consanguinity in parents can increase the risk of autosomal recessive conditions.

Purpose of the Study:

  • To describe a unique family with a progressive, midlife-onset neurological illness.
  • To investigate the clinical and pathological features of this disorder.
  • To determine the likely mode of inheritance.

Main Methods:

  • Clinical observation of three affected siblings.
  • Neurological examination and symptom documentation.
  • Muscle biopsy and sural nerve studies.
  • Postmortem examination of brain tissue (caudate nucleus, putamen).

Main Results:

  • The illness presented in midlife with chorea, progressing to death in the fourth decade.
  • Erythrocyte acanthocytosis was observed in the proband.
  • Neurogenic muscular atrophy and reduced large myelinated axons were found.
  • Postmortem findings included atrophy, neuronal loss, and gliosis in the basal ganglia (caudate nucleus and putamen).

Conclusions:

  • The clinical and pathological findings suggest a distinct neurodegenerative disorder.
  • Autosomal recessive inheritance is the likely genetic basis for this condition in the described family.
  • The basal ganglia are significantly affected in this progressive choreiform disorder.

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