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Am J Med Genet. 1989 Jun;33(2):266-8.

"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus.

Author information

1
Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans 70112.

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.

PMID:
2764036
DOI:
10.1002/ajmg.1320330224
[Indexed for MEDLINE]

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