title: Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.
abstract: We describe the clinical and oculographic findings in 4 families with episodic ataxia and interictal nystagmus (EA-2) linked to chromosome 19p. Episodes varied from pure ataxia to combinations of symptoms suggesting involvement of the cerebellum, brainstem, and cortex. Some affected individuals exhibited a progressive ataxia syndrome phenotypically indistinguishable from the dominantly inherited spinocerebellar ataxia (SCA) syndromes. About one-half of the affected individuals had migraine headaches and several had episodes typical of basilar migraine. Oculographic findings were localizing to the vestibulocerebellum and posterior vermis. Additional genetic and environmental factors must account for the marked clinical heterogeneity in these families with an abnormal gene on chromosome 19p.
authors.affiliation: Department of Neurology, UCLA School of Medicine, Los Angeles, CA 90095-1769, USA.
authors.forename: R W
authors.initials: RW
authors.lastname: Baloh
authors.forename: Q
authors.initials: Q
authors.lastname: Yue
authors.forename: J M
authors.initials: JM
authors.lastname: Furman
authors.forename: S F
authors.initials: SF
authors.lastname: Nelson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005133:Eye Movements / Q000502:physiology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree