Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.
Molecular analysis of spinocerebellar ataxias revealed a pathologic GAA expansion in the gene encoding frataxin in six adult patients from three families. These patients, carrying expanded alleles in the low-range size, had an exceptionally late onset and lacked cardiomyopathy, pointing to phenotypic variability of Friedreich's ataxia. Both mitotic and gametic instability of the expanded triplet repeat were present in these families.
Gellera
C
C
Department of Biochemistry, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
Pareyson
D
D
Castellotti
B
B
Mazzucchelli
F
F
Zappacosta
B
B
Pandolfo
M
M
Di Donato
S
S
D000328:Adult; D000368:Aged; D000483:Alleles; D009202:Cardiomyopathies; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications / Q000235:genetics*; D006801:Humans; D033862:Iron-Binding Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D000096923:Frataxin
D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin