“Acadian” and “classical” forms of Friedreich ataxia are most probably caused by mutations at the same locus
- 1 June 1989
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 33 (2) , 266-268
- https://doi.org/10.1002/ajmg.1320330224
Abstract
“Acadian ataxia” is a form of Friedreich ataxia found in individuals of Acadian ancestry. It was described by Barbeau (in Sobue I (ed): Spinocerebellar Degeneration; Tokyo: Univ. Tokyo Press, pp 121-142, 1980) as having a slower course of degeneration and less severe secondary symptoms than “classical” Friedreich ataxia. He suggested that these 2 forms of the disease may be distinct. The mutation causing “classical” Friedreich ataxia has recently been mapped to chromosome 9 through genetic linkage studies, and here we show that the locus causing Friedreich ataxia in Acadian families from southwestern Louisiana is tightly linked to the same DNA marker, D9S15. Thus, these 2 disorders, which may be differentiated clinically, are most probably due to mutation(s) at the same locus on chromosome 9.Keywords
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