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  • Title: Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients.
    Author: Santoro L, Perretti A, Crisci C, Ragno M, Massini R, Filla A, De Michele G, Caruso G.
    Journal: Muscle Nerve; 1990 Jun; 13(6):536-40. PubMed ID: 2366825.
    Abstract:
    A clinical and electrophysiological follow-up was carried out for 3 to 7 years on 15 patients with Friedreich's ataxia (FA). Sural nerve biopsy was performed once in all patients, and a second time 6-7 years later in three of them. Clinical worsening and progression of disturbance were evaluated according to IAP and IACR scales. Sensory orthodromic conduction along median and tibial nerves was typical of FA and did not change between first and last examinations, nor were there morphological changes between the first and the second sural nerve biopsies. Peripheral nerve involvement is thought to be a result of defective development of the largest neurons and to remain stable from a very early stage of the disease; the clinical worsening may then be due to a progressive involvement of the pyramidal tracts and the cerebellar pathways.
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