Friedreich's ataxia: Electrophysiologic and histologic findings in patients and relatives
β Scribed by Dr. G. Caruso; L. Santoro; A. Perretti; R. Massini; L. Pelosi; C. Crisci; M. Ragno; G. Campanella; A. Filla
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 965 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0148-639X
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Friedreich's ataxia (FRDA) is caused by point mutations or trinucleotide repeat expansions in both alleles of the gene encoding frataxin. Studies of frataxin homologues in lower eukaryotes suggest that mitochondrial iron accumulation may underlie the pathophysiology of FRDA. To evaluate the possible
## Abstract Perturbations of precision grip were tested in 7 patients with Friedreich's ataxia (FA) and 11 patients with lateβonset cerebellar ataxia (CA). Subjects were instructed to hold a small compressible manipulandum between thumb and index finger and to resist any perturbation of maintained