Article
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.
Journal of neurology, neurosurgery, and psychiatry - 1 Aug 1994
De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O, Monticelli A, Varrone S, Campanella G
Abstract excerpt
Twenty two patients from 17 families with Friedreich's disease phenotype but with onset ranging from the ages of 21 to 36 are described. Comparison with "typical" Friedreich's disease with onset before 20 years of age showed only a lower occurrence of skeletal deformities. The peripheral and cent...
Topics
- Adaptor Proteins, Signal Transducing
- Adult
- Age Factors
- Biopsy
- Chromosome Mapping
- Chromosomes, Human, Pair 9
- Diagnosis, Differential
- Female
- Friedreich Ataxia
- Humans
- Lod Score
- Male
- Mutation
- Nerve Tissue Proteins