[Congenital cerebellar ataxia (a familial case)].
Inborn cerebellar ataxia is a very rare disease and current literature contains singular reports of familial observations. This report deals with a description of a family where the sibs both had inborn cerebellar ataxia. In this particular family the disease was inherited according to the recessive type. An examination of the parents displayed stem vestibular symptomatology, similar to the changes seen in the children. The author is of the opinion that the stem vestibular symptomatology seen in the parents may be an expression of heterozygotic carriers.
D000293:Adolescent; D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male
Vrozhdennaia mozzhechkovaia ataksiia (semeĭnoe nabliudenie)