A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p
- Oregon Health Oregon Health Sciences Univ., Portland, OR (United States); and others
Episodic ataxia (EA) is a rare neurological disorder characterized by attacks of generalized ataxia and near-normal neurological function between attacks. Most inherited cases are the result of an autosomal dominant condition with unknown neuropathology. It is heterogeneous and includes at least two distinct forms. In EA-1, attacks last minutes and interictal myokymia may be present. In EA-2, attacks may last hours and interictal nystagmus may occur. We reported linkage in four EA-1 families to chromosome 12p13 and identified mutations in these families in a potassium channel gene, KCNA1. Recently, we reported linkage in two EA-2 families to a 30-cM region on chromosome 19p. This report is based on members of the same two families and one additional kindred. 18 refs., 1 fig., 1 tab.
- OSTI ID:
- 91079
- Journal Information:
- American Journal of Human Genetics, Vol. 57, Issue 1; Other Information: PBD: Jul 1995
- Country of Publication:
- United States
- Language:
- English
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