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  • Title: Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study.
    Author: Verhagen WI, Gabreëls-Festen AA, van Wensen PJ, Joosten EM, Vingerhoets HM, Gabreëls FJ, de Graaf R.
    Journal: J Neurol Sci; 1993 Jun; 116(2):176-84. PubMed ID: 8393091.
    Abstract:
    Clinical, electroneurographic and myographic studies were performed on 99 patients of 13 families having hereditary neuropathy with liability to pressure palsies (HNPP) and on 116 relatives. Diagnosis was confirmed in all families by a nerve biopsy of the index case. Large focal myelin thickenings (tomacula) were found in nerve biopsies of affected persons, whether or not pressure palsies had occurred. By using three electroneurographical parameters it was possible to discriminate between asymptomatic patients and unaffected relatives. Complaints sometimes mentioned in literature as being associated with HNPP such as low back pain, brachialgia and short lasting paraesthesia are not related to HNPP. The hereditary transmission is autosomal dominant with total penetration but variable expression.
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