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• W2013296019 abstract "Peripheral nerve conduction velocity and cortical evoked potentials were investigated in 48 patients with Friedreich's disease and in 35 relatives. There were 14 patients and 2 relatives who underwent sural nerve biopsy. In the patients sensory conduction velocity was moderately slowed, whereas sensory responses were markedly reduced. Nerve biopsy showed a severe loss of large myelinated fibers and no demyelination. On teased nerve fiber preparations, most fibers presented uniformly short internodes. No correlation was seen between sensory conduction findings or histologic abnormalities and clinical disability. In patients SSEP changes, which were constant, and VEPs, which were frequently involved, were unrelated to the severity or duration of clinical disability. The were 14 relatives who showed clinical signs of Friedreich's disease. Slightly decreased distal conduction velocity along sensory fibers was observed in more than half of the relatives. Nerve biopsy was noncontributory. In conclusion, we could not determine whether the abnormalities observed in the siblings were an expression of a heterozygotic condition, or whether they were early signs of the disease." @default.
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• W2013296019 date "1987-07-01" @default.
• W2013296019 modified "2023-10-16" @default.
• W2013296019 title "Friedreich's ataxia: Electrophysiologic and histologic findings in patients and relatives" @default.
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• W2013296019 doi "https://doi.org/10.1002/mus.880100604" @default.
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