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September 1968

Familial Myoclonus, Cerebellar Ataxia, and Deafness: Specific Genetically-Determined Disease

Author Affiliations

Kansas City, Kan
From the Department of Medicine, Section of Neurology, Kansas University School of Medicine, Kansas City, Kan.

Arch Neurol. 1968;19(3):331-338. doi:10.1001/archneur.1968.00480030109013

MYOCLONUS may be a symptom in a wide variety of diseases which affect the central nervous system (CNS). Myoclonic jerking may occur in the course of a benign "idiopathic" convulsive disorder, as the only symptom of a nonprogressive disorder in some families (essential myoclonus), or as part of a constellation of symptoms in certain progressive degenerative diseases.

The purpose of this communication is to present the clinical details of a family in which the occurrence of myoclonus, cerebellar ataxia, and deafness in several generations is thought to represent a distinct genetically-determined disorder. The nosology and relationships between this family and the cases previously described by Unverricht,1 Lundborg,2 Lafora,3 and Hunt4 will be discussed.

Report of Cases  CASE 1.—The proband (V-4, Fig 1) is a 32year-old white man who was admitted to the University of Kansas Medical Center in April 1967 for evaluation of progressive hearing loss

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