[Cumulative familial olivopontocerebellar atrophy type IV].
Three affected members of a family with olivopontocerebellar atrophy IV (Schut-Haymaker type) of autosomal dominant inheritance are presented. The five types of olivopontocerebellar atrophy are differentiated on the basis of clinical symptoms and the mode of inheritance. Its clinical symptoms are varied but the cerebellar ataxia of different extent is present in every case which may be followed by pyramidal and extrapyramidal symptoms. Clear differentiation from the other types is based on the destruction of the nuclei of cranial cerebral nerves (IX, X, XII).
Erös
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Humángenetikai és Teratológiai Osztály, Országos Közegészségügyi Intézet-WHO Orökletes Artalmak Társadalmi Megelözése Együttmüködési Központ, Budapest.
Czeizel
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D000328:Adult; D002524:Cerebellar Ataxia / Q000209:etiology / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003391:Cranial Nerves / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009849:Olivopontocerebellar Atrophies / Q000145:classification / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011712:Pyramidal Tracts / Q000002:abnormalities
Olivopontocerebellaris atrophia IV. típusának családi halmozódása.