[An autopsy case of hereditary cerebellar atrophy (Holmes-type) with mental symptoms and rhythmic skeletal myoclonus]

No To Shinkei. 1994 Jul;46(7):663-70.
[Article in Japanese]

Abstract

We report on the clinicopathological findings in autosomal recessive hereditary cortical cerebellar atrophy of the Holmes type (H-CCA). Although based on the patient's family tree we cannot rule out the possibility of sex-linked recessive hereditary disease, both clinically and pathologically we differentiated this case from sex-linked recessive hereditary cortical cerebellar atrophy, in which lesions are widely distributed and associated with a variety of symptoms, since the major clinical feature was cerebellar ataxia, and the major lesions were limited to the olivocerebellar system. The patient's initial symptom was a motor disturbance in the upper extremities at the age of 16. This was followed by chronic progression of his symptoms, with cerebellar ataxia becoming the major symptom. The patient died unexpectedly at 40 years of age as a result of choking caused by misswallowing. The total period of observation was 24 years. The clinical features in this case were juvenile onset at age 16 with motor disorders of the upper extremities, followed by cerebellar ataxia, mental symptoms, mainly consisting of personality changes, and associated rhythmic skeletal myoclonus (RSM). Even though the patient died in the middle stage of the disease, pathologically there were extensive lesions in the olivocerebellar system, i.e., extensive degeneration not only of Purkinje cells but of granular cells and the molecular layer, and the distribution of the lesions was characteristic, with more extensive degeneration in the neocerebellum than in the paleocerebellum.(ABSTRACT TRUNCATED AT 250 WORDS)

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adult
  • Cerebellum / pathology
  • Family Health
  • Genes, Recessive
  • Humans
  • Male
  • Mental Disorders / etiology*
  • Myoclonus / etiology*
  • Spinocerebellar Degenerations / complications
  • Spinocerebellar Degenerations / genetics
  • Spinocerebellar Degenerations / pathology*