A FAMILY WITH TOMACULOUS NEUROPATHY MIMICKING CHARCOT-MARIE-TOOTH DISEASE

被引:15
|
作者
BARBIERI, F
SANTANGELO, R
CRISCI, C
RAGNO, M
PERRETTI, A
SANTORO, L
机构
[1] Department of Neurology Second School of Medicine, University of Naples, Naples
[2] Department of Clinical Neurophysiology, Second School of Medicine, University of Naples, Naples
关键词
Charcot-Marie-Tooth disease HMSN; Sural nerve biopsy; Tomaculous neuropathy;
D O I
10.1016/0303-8467(90)90037-6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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. © 1990.
引用
收藏
页码:289 / 294
页数:6
相关论文
共 50 条
  • [1] TOMACULOUS NEUROPATHY IN CHROMOSOME 1 CHARCOT-MARIE-TOOTH SYNDROME
    THOMAS, FP
    LEBO, RV
    ROSOKLIJA, G
    DING, XS
    LOVELACE, RE
    LATOV, N
    HAYS, AP
    ACTA NEUROPATHOLOGICA, 1994, 87 (01) : 91 - 97
  • [2] AN AGGRESSIVE DEMYELINATING NEUROPATHY MIMICKING CHARCOT-MARIE-TOOTH DISEASE
    De Grado, Amedeo
    Pisciotta, Chiara
    Benzoni, Chiara
    Salsano, Ettore
    Corbetta, Marinella
    Magri, Stefania
    Taroni, Franco
    Pareyson, Davide
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2024, 29 : S18 - S18
  • [3] Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation
    Tachi, N
    Kozuka, N
    Ohya, K
    Chiba, S
    Sasaki, K
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1997, 153 (01) : 106 - 109
  • [4] Optic Neuropathy in Charcot-Marie-Tooth Disease
    Hamedani, Ali G.
    Wilson, James A.
    Avery, Robert A.
    Scherer, Steven S.
    JOURNAL OF NEURO-OPHTHALMOLOGY, 2021, 41 (02) : 233 - 238
  • [5] A FAMILY STUDY OF CHARCOT-MARIE-TOOTH DISEASE
    BROOKS, AP
    EMERY, AEH
    JOURNAL OF MEDICAL GENETICS, 1982, 19 (02) : 88 - 93
  • [6] CHARCOT-MARIE-TOOTH DISEASE - REPORT OF A FAMILY
    ALONSO, ME
    FIGUEROA, H
    ZERMENO, F
    ESCOBAR, A
    FLORES, T
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 1980, 32 (01): : 129 - 129
  • [7] Axonal Charcot-Marie-Tooth disease: A neuropathy in mist
    Angiari, C.
    Ferrarini, M.
    Taioli, F.
    Ferrari, S.
    Cavallaro, T.
    Rizzuto, N.
    Fabrizi, G. M.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2007, 12 (02) : 145 - 145
  • [8] Acute inflammatory neuropathy in Charcot-Marie-Tooth disease
    Malandrini, A
    Villanova, M
    Dotti, MT
    Federico, A
    NEUROLOGY, 1999, 52 (04) : 859 - 861
  • [9] CHARCOT-MARIE-TOOTH DISEASE - A FAMILY STUDY
    ALONSO, ME
    FIGUEROA, HH
    ZERMENO, F
    ESCOBAR, A
    FLORES, T
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 1981, 33 (03): : 303 - 307
  • [10] Small fiber neuropathy in Charcot-Marie-Tooth disease
    Zambelis, Th.
    ACTA NEUROLOGICA BELGICA, 2009, 109 (04) : 294 - 297