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Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p

✍ Scribed by Dr Robert W. Baloh; Qing Yue; Joseph M. Furman; Stanley F. Nelson

Book ID: 102706530
Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 866 KB
Volume: 41
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410410105

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✦ Synopsis

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.

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