Localization of the candidate gene d-amino acid oxidase outside the refined 1-cM region of spinocerebellar ataxia 2

Journal Article · Sun Oct 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:237459

Auburger, G; Gispert, S; Lunkes, A ^[1]

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1. Univ. Hospital, Duesseldorf (Germany); and others

Spinocerebellar ataxia 2 (SCA2) is one form of the neurodegenerative autosomal dominant cerebellar ataxias and has been linked to chromosome 12q in 25 previously described and 13 new families from a founder collective of {ge}500 patients in Holguin, Cuba. Although SCA2 in most patients cannot be distinguished from other spinocerebellar ataxias by clinical criteria, in some patients it exhibits a particular phenotype with early neuropathy/late slow saccades and late myoclonus. Autopsy in 11 patients demonstrated olivo-ponto-cerebellar atrophy with a selective sparing of the dentate nucleus. Complete allelic association within the Holguin population was established with the microsatellite D12S105, and the candidate region was determined to be within a 6-cM region distal to the marker D12S84, contrasting previous reports by Pulst and Lopes-Cendes and according to preliminary data between D12S84 and D12S1329. 17 refs., 1 fig., 1 tab.

• OSTI ID: 237459
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINE OXIDASES
AMINO ACIDS
BIOLOGICAL MARKERS
CUBA
DOMINANT MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 12
INTRONS
NERVOUS SYSTEM DISEASES
PATIENTS
PHENOTYPE