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Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p
Author(s) -
Baloh Robert W.,
Yue Qing,
Furman Joseph M.,
Nelson Stanley F.
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410410105
Subject(s) - ataxia , cerebellum , headaches , neuroscience , cerebellar ataxia , medicine , genetics , biology , psychiatry
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 combinatins of symptoms suggesting involvement of the cerebellum, brainstem, and cortex. Some affected individuals exhibited a progressive ataxia syndrome phenotypically indistiguishable 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.