Article
Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging.
Neurology - 1 Jan 1996
Klockgether T, Zühlke C, Schulz J B, Bürk K, Fetter M, Dittmann H, Skalej M, Dichgans J
Abstract excerpt
Lower limb areflexia is generally regarded as an essential criterion for the diagnosis of Friedreich's ataxia (FRDA). We describe a family with a recessive form of early-onset ataxia in which one member had a phenotype typical of FRDA whereas another, with retained tendon reflexes in the lower limbs, did not have electrophysiologic evidence of the usual severe afferent axonal neuropathy of FRDA. In contrast,...
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