Article
Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.
Acta neuropathologica - 1 Feb 1999
Klopstock T, Chahrokh-Zadeh S, Holinski-Feder E, Meindl A, Gasser T, Pongratz D, Müller-Felber W
Abstract excerpt
Friedreich's ataxia (FA) is most frequently caused by intronic trinucleotide repeat expansions in the frataxin gene on chromosome 9. The broad clinical spectrum includes late-onset FA (LOFA) and FA with retained reflexes (FARR). The size of the GAA expansions accounts for most, but not all, of th...
Topics
- Adult
- Age of Onset
- Ataxia
- Disease Progression
- Female
- Friedreich Ataxia
- Humans
- Iron-Binding Proteins
- Male
- Nuclear Family
- Optic Atrophy
- Phenotype
- Phosphotransferases (Alcohol Group Acceptor)
- Reflex, Abnormal
- Trinucleotide Repeat Expansion
- Frataxin