A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p

Journal Article · Sat Jul 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:91079

Kramer, P L; Gancher, S T; Nutt, J G ^[1]

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1. 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, Journal Name: American Journal of Human Genetics Journal Issue: 1 Vol. 57; ISSN 0002-9297; ISSN AJHGAG
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
DOMINANT MUTATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HUMAN CHROMOSOME 19
NERVOUS SYSTEM DISEASES
PATIENTS
STATISTICS