Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.
1994; BMJ; Volume: 57; Issue: 8 Linguagem: Inglês
10.1136/jnnp.57.8.977
ISSN1468-330X
AutoresGiuseppe De Michele, Alessandro Filla, Francesca Cavalcanti, Luigi Di Maio, Luigi Pianese, Imma Castaldo, Olga Calabrese, Antonella Monticelli, S Varrone, G Campanella,
Tópico(s)Neurological diseases and metabolism
ResumoTwenty two patients from 17 families with Friedreich9s disease phenotype but with onset ranging from the ages of 21 to 36 are described. Comparison with "typical" Friedreich9s disease with onset before 20 years of age showed only a lower occurrence of skeletal deformities. The peripheral and central neurophysiological findings, sural nerve biopsy, and the neuroradiological picture did not allow the differentiation between "late onset" and "typical" Friedreich9s disease. Duration of disease from onset to becoming confined to a wheelchair was five years longer in late onset patients. Sixteen patients and 25 healthy members from eight families were typed with the chromosome 9 markers MLS1, MS, and GS4 tightly linked to the FRDA locus. All families showed positive lod scores with a combined value of 5.17 at a recombination fraction of theta = 0.00. It is concluded that "late onset" Friedreich9s disease is milder than the "typical" form and that it maps to the same locus on chromosome 9.
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