Literature DB >> 2171842

A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease.

F Barbieri1, R Santangelo, C Crisci, M Ragno, A Perretti, L Santoro.   

Abstract

The appearance of Guillain-Barré syndrome in a 9-year-old girl led to the detection of a hereditary neuropathy in her family. This neuropathy showed clinical and electrophysiological characteristics of Charcot-Marie-Tooth disease. Only nerve biopsy performed in a sister of the proband allowed diagnosis of tomaculous neuropathy which presented unusual clinical, electrophysiological and bioptic aspects.

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Year:  1990        PMID： 2171842     DOI： 10.1016/0303-8467(90)90037-6

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


  4 in total

Review 1.  Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.

Authors:  G Nicholson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-05       Impact factor: 10.154

2.  Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.

Authors:  E C Mariman; A A Gabreëls-Festen; S E van Beersum; P J Jongen; H H Ropers; F J Gabreëls
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

3.  Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.

Authors:  F Umehara; S Takenaga; M Nakagawa; K Takahashi; S Izumo; K Matsumuro; S Sakota; T Nishimura; H Yoshikawa; M Osame
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

4.  Clinical spectrum of the tomaculous neuropathies. Report of 60 cases and review of the literature.

Authors:  N Rizzuto; G Moretto; S Galiazzo Rizzuto
Journal:  Ital J Neurol Sci       Date:  1993-12
  4 in total

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