title: Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.
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.
authors.affiliation: Department of Genetics, Hospital Universitari La Fe, Valencia, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Palau
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: J J
authors.initials: JJ
authors.lastname: Vilchez
authors.forename: M
authors.initials: M
authors.lastname: Pandolfo
authors.forename: E
authors.initials: E
authors.lastname: Monrós
authors.forename: S
authors.initials: S
authors.lastname: Cocozza
authors.forename: P
authors.initials: P
authors.lastname: Smeyers
authors.forename: J
authors.initials: J
authors.lastname: Lopez-Arlandis
authors.forename: G
authors.initials: G
authors.lastname: Campanella
authors.forename: S
authors.initials: S
authors.lastname: Di Donato
mesh_terms: 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