TY - JOUR
T1 - Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
AU - Palau, Francisco
AU - De Michele, Giuseppe
AU - Vilchez, Juan J.
AU - Pandolfo, Massimo
AU - Monrós, Eugènia
AU - Cocozza, Sergio
AU - Smeyers, Patricia
AU - Lopez-Arlandis, José
AU - Campanella, Giuseppe
AU - Di Donato, Stefano
AU - Filla, Alessandro
PY - 1995/3
Y1 - 1995/3
N2 - 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.
AB - 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.
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U2 - 10.1002/ana.410370312
DO - 10.1002/ana.410370312
M3 - Article
C2 - 7695235
AN - SCOPUS:0028941326
SN - 0364-5134
VL - 37
SP - 359
EP - 362
JO - Annals of Neurology
JF - Annals of Neurology
IS - 3
ER -