The spinocerebellar ataxia 2 locus is located within a 3-cm interval on chromosome 12q23-24.1
- 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, Vol. 57, Issue 1; Other Information: PBD: Jul 1995
- Country of Publication:
- United States
- Language:
- English
Similar Records
Exclusion of the neuronal nitric oxide synthase gene and the human achaete-scute homologue 1 gene as candidate loci for spinal cerebellar ataxia 2 (SCA2)
Genetic map of the spinocerebellar ataxia type 2 (SCA2) region on chromosome 12