Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q |
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| Authors: | Francisco Palau,Giuseppe de Michele,Juan J. Vilchez,Massimo Pandolfo,Eug gnia Monr s,Sergio Cocozza,Patricia Smeyers,Jos Lopez-Arlandis,Giuseppe Campanella,Stefano di Donato,Alessandro Filla |
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| Affiliation: | Francisco Palau,Giuseppe de Michele,Juan J. Vilchez,Massimo Pandolfo,Eugègnia Monrós,Sergio Cocozza,Patricia Smeyers,José Lopez-Arlandis,Giuseppe Campanella,Stefano di Donato,Alessandro Filla |
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| Abstract: | 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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