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  • Title: Autosomal recessive hypermyelinating neuropathy.
    Author: Sabatelli M, Mignogna T, Lippi G, Servidei S, Manfredi G, Ricci E, Bertini E, Lo Monaco M, Tonali P.
    Journal: Acta Neuropathol; 1994; 87(4):337-42. PubMed ID: 8017168.
    Abstract:
    We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that "hypermyelination neuropathy" with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy.
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