"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus.
"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.
Keats
B J
BJ
Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans 70112.
Ward
L J
LJ
Shaw
J
J
Wickremasinghe
A
A
Chamberlain
S
S
D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005621:Friedreich Ataxia / Q000208:ethnology / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009154:Mutation; D011995:Recombination, Genetic
D005819:Genetic Markers