Abstracts: Informative crossover refines mapping of the CADASIL disease locus

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HUM-MOLGEN -> Documents -> Abstracts

September 06, 1995

M. Dichgans(1), M. Mayer(1), B. MÃ¼ller(2), A. Straube(1) and T. Gasser(1)

(1) Department of Neurology, Klinikum Grosshadern; (2) Department of Pediatric Genetics, Ludwig-Maximilians-University, Munich, Germany

2nd Workshop Neurogenetics in Germany, Munich, October 19-21, 1995

is a non-arteriosclerotic, non-amyloid angiopathy characterized by recurrent subcortical ischemic strokes with onset in mid-adulthood and stepwise progression over two decades frequently leading to pseudobulbar palsy and dementia. The disease locus has recently been mapped to chromosome 19q12. Using genetic linkage analysis on a previously unpublished pedigree with CADASIL we have identified a chromosomal crossover in a clinically affected family member which refines mapping of the CADASIL disease locus. Multilocus linkage analysis established the best estimate for the gene locus within an 8 centimorgan interval bracketed by the microsatellite markers D19S226 and D19S222. This allows us to re-address the question of whether CADASIL and familial hemiplegic migraine (FHM), a second mendelian disorder which has recently been mapped to chromosome 19q12, represent allelic disorders.

Headings
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

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