Genetic Abnormalities in Friedreich's Ataxia
Open Access
- 3 April 1997
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 336 (14) , 1021-1023
- https://doi.org/10.1056/nejm199704033361412
Abstract
Dürr and colleagues (Oct. 17 issue)1 correlated the phenotypic features of Friedreich's ataxia and the size of an intronic GAA-triplet repeat in the gene that causes the disease, X25, and concluded that “the clinical spectrum of Friedreich's ataxia is broader than previously recognized” and that “the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling.” We disagree with these conclusions.Keywords
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- Clinical and Genetic Abnormalities in Patients with Friedreich's AtaxiaNew England Journal of Medicine, 1996
- The Friedreich's ataxia gene encodes a novel phosphatidylinositol–4–phosphate 5–kinaseNature Genetics, 1996
- Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat ExpansionScience, 1996
- DYNAMIC RNA-RNA INTERACTIONS IN THE SPLICEOSOMEAnnual Review of Genetics, 1994