par Palau, F;De Michele, G;Vilchez, J J;Pandolfo, Massimo ;Monrós, E;Cocozza, Sergio;Smeyers, P;Lopez-Arlandis, J;Campanella, G;di Donato, S
Référence Annals of neurology, 37, 3, page (359-362)
Publication Publié, 1995-03
Référence Annals of neurology, 37, 3, page (359-362)
Publication Publié, 1995-03
Article révisé par les pairs
Résumé : | Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Friedreich's ataxia (FA). However, preservation of knee and ankle jerks has been reported in a few patients. Linkage analysis to FA locus (FRDA) on chromosome 9q13-21.1 was performed in 11 patients from 6 families with FA phenotype, including cardiomyopathy, but retained reflexes (FARR). A maximal lod score of 3.38 at recombination fraction theta equal to 0.00 was obtained demonstrating that FARR maps to the FRDA locus. These results suggest that FARR is a variant phenotype of FA. |