[Familial episodic ataxia].
5 members of a family with periodic cerebellar dysfunctions are described. This rare disorder occurred in the early childhood and is characterised by episodes lasting minutes to hours with severe cerebellar ataxia, dysarthria, diplopie, nystagmus, vertigo and vegetative symptoms. The examinations between attacks are almost normal. The inheritance appears to be autosomal dominant. An atrophy of the cerebellar vermis was found in two patients. Syndrome and investigation results were compared to the seven papers according this disorder, which were published until now.
D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002675:Child, Preschool; D004200:Diseases in Twins; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D014057:Tomography, X-Ray Computed
Familiäre episodische Ataxie.