Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.
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.
Palau
F
F
Department of Genetics, Hospital Universitari La Fe, Valencia, Spain.
De Michele
G
G
Vilchez
J J
JJ
Pandolfo
M
M
Monrós
E
E
Cocozza
S
S
Smeyers
P
P
Lopez-Arlandis
J
J
Campanella
G
G
Di Donato
S
S
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004452:Echocardiography; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012026:Reflex, Stretch / Q000502:physiology; D012091:Repetitive Sequences, Nucleic Acid; D013116:Spinal Cord / Q000473:pathology