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Friedreich ataxia: clinical and genetic aspects

✍ Scribed by Massimo Pandolfo


Book ID
117670866
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
133 KB
Volume
7
Category
Article
ISSN
0960-8966

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Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin. An expansion of a GAA trinucleotide repeat in intron 1 of the gene is present in more than 95% of mutant alleles. Of the 83 people we studied who have muta

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## Abstract Dysarthria in Friedreich Ataxia (FA) is difficult to quantify. This study evaluated a series of performance measures for speech in 22 patients with genetically confirmed FA and 16 age‐matched controls. Tests included the PATA examination, the PATAKA examination, the Oral Motor component