The spinocerebellar ataxia 2 locus is located within a 3-cm interval on chromosome 12q23-24.1

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

OSTI ID:91080

Allotey, R; Twells, R; Cemal, C ^[1]

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1. Imperial College, London (United Kingdom); and others

The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of neurodegenerative disorders characterized by a predominantly cerebellar syndrome of onset with gait ataxia, dysarthria, dysmetria, and dysdiadochokinesia. Pathologically, the disorders are characterized by premature neuronal loss in the cerebellar cortex and the inferior olivary and pontine nuclei, with degeneration of the spinal cord. We have previously assigned the spinocerebellar ataxia 2 locus to chromosome 12q23-24.1, within a 31-cM interval flanked by the loci D12S58 and PLA2. Linkage to SCA2 has been demonstrated in pedigrees from Europe, Japan, and North America, the latter serving to refine the candidate region to a 16-cM interval. We report here genetic analysis undertaken between SCA2 and nine microsatellite loci known to span 8 cM within this interval. 12 refs., 2 figs., 1 tab.

• OSTI ID: 91080
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 1 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
DOMINANT MUTATIONS
GENE RECOMBINATION
GENES
GENETIC MAPPING
GENETICS
HUMAN CHROMOSOME 12
NERVOUS SYSTEM DISEASES
PATIENTS
STATISTICS