Friedreich ataxia: clinical and genetic aspects
β 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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π SIMILAR VOLUMES
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
## 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 ageβmatched controls. Tests included the PATA examination, the PATAKA examination, the Oral Motor component