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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Atrophy
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Cardiomyopathy, Hypertrophic / diagnosis
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Cardiomyopathy, Hypertrophic / etiology*
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Cardiomyopathy, Hypertrophic / genetics
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Cerebellum / pathology
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Child
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Child, Preschool
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Chromosome Mapping*
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Chromosomes, Human, Pair 9*
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Echocardiography
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Female
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Friedreich Ataxia / complications
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Friedreich Ataxia / genetics*
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Friedreich Ataxia / physiopathology
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Humans
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Lod Score
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Magnetic Resonance Imaging
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Male
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Pedigree
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Phenotype
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Point Mutation
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Polymorphism, Restriction Fragment Length
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Reflex, Stretch / physiology
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Repetitive Sequences, Nucleic Acid
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Spinal Cord / pathology