Congenital cataract and spinocerebellar ataxia in father and son

I. Hussels Maumenee, E. Maumenee

Research output: Contribution to journalArticlepeer-review


Spinocerebellar ataxia accompanied by congenital cataracts and oligophrenia is a well known syndrome carrying the eponym of Marinesco-Sjoegren. The mode of inheritance is clearly autosomal recessive with a high frequency of consanguinity among the parents as demonstrated by Sjoegren. Autosomal dominant inheritance is the most likely mode of transmission in the presented family. Also, the onset of neurologic problems is insidious and late in life. The patient, a 58 yr old white male, first came to the attention of a neurologist because of difficult walking starting around age 50. He had been operated for congenital cataracts at age 2 yr and had maintained a lifelong 20/100 visual acuity. His neurologic problems were rapidly progressive so that at age 56 he was able to walk only a few steps using 2 canes as support. Slurring of speech became noticeable around age 54 to 56. There was a questionable decline of cerebral function over the past yr. The family history is positive for a son with congenital cataracts and mild neurologic signs such as increased deep tendon reflexes, intermediate to positive Babinski sign bilaterally and general clumsiness.

Original languageEnglish (US)
Pages (from-to)331-332
Number of pages2
Issue number5
StatePublished - Jan 1 1975

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)


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