Format

Send to

Choose Destination
Ann Neurol. 1997 Jan;41(1):8-16.

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

Author information

1
Department of Neurology, UCLA School of Medicine, Los Angeles, CA 90095-1769, USA.

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.

Comment in

PMID:
9005860
DOI:
10.1002/ana.410410105
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center