Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies

被引:12
|
作者
Benstead, TJ
Grant, IA
机构
[1] QEII Hlth Sci Ctr, Div Neurol, Halifax, NS B3H 3A7, Canada
[2] Dalhousie Univ, Sch Med, Halifax, NS, Canada
关键词
D O I
10.1017/S0317167100001347
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinpoint a specific inherited neuropathy for many patients. However, clinical and electrophysiological assessments continue to be essential tools for diagnosis and management of this disease group. This article reviews clinical, electrophysiological, pathological and molecular aspects of hereditary motor and sensory neuropathies.
引用
收藏
页码:199 / 214
页数:16
相关论文
共 50 条
  • [31] Charcot-Marie-Tooth neuropathies: Diagnosis and management
    Jani-Acsadi, Agnes
    Krajewski, Karen
    Shy, Michael E.
    SEMINARS IN NEUROLOGY, 2008, 28 (02) : 185 - 194
  • [32] Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for related peripheral neuropathies Charcot-Marie-Tooth disease and
    Saifi, GM
    Szigeti, K
    Snipes, GJ
    Garcia, CA
    Lupski, JR
    JOURNAL OF INVESTIGATIVE MEDICINE, 2003, 51 (05) : 261 - 283
  • [33] COMPLICATIONS RELATED TO PREGNANCY AND DELIVERY IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE AND RELATED HEREDITARY NEUROPATHIES
    Skorupinska, M.
    Laura, M.
    Bull, K.
    Byrne, B.
    Hanna, M. G.
    Reilly, M. M.
    MUSCLE & NERVE, 2018, 58 : S10 - S10
  • [34] Clinical genetics of Charcot-Marie-Tooth disease
    Higuchi, Yujiro
    Takashima, Hiroshi
    JOURNAL OF HUMAN GENETICS, 2023, 68 (03) : 199 - 214
  • [35] CHARCOT-MARIE-TOOTH DISEASE - A NEW PARADIGM FOR THE MECHANISM OF INHERITED DISEASE
    PATEL, PI
    LUPSKI, JR
    TRENDS IN GENETICS, 1994, 10 (04) : 128 - 133
  • [36] EVALUATION AND MANAGEMENT OF UPPER EXTREMITY NEUROPATHIES IN CHARCOT-MARIE-TOOTH DISEASE
    BROWN, RE
    ZAMBONI, WA
    ZOOK, EG
    RUSSELL, RC
    JOURNAL OF HAND SURGERY-AMERICAN VOLUME, 1992, 17A (03): : 523 - 530
  • [37] Charcot-Marie-Tooth disease and hereditary motor neuropathies - Update 2020
    Rudnik-Schoeneborn, Sabine
    Auer-Grumbach, Michaela
    Senderek, Jan
    MEDIZINISCHE GENETIK, 2020, 32 (03) : 207 - 219
  • [38] Charcot-Marie-Tooth disease
    Gregory T. Carter
    Michael D. Weiss
    Jay J. Han
    Phillip F. Chance
    John D. England
    Current Treatment Options in Neurology, 2008, 10 : 94 - 102
  • [39] Charcot-Marie-Tooth disease
    Szigeti, Kinga
    Lupski, James R.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (06) : 703 - 710
  • [40] CHARCOT-MARIE-TOOTH DISEASE
    MARTEL, J
    MIERAU, D
    DONAT, J
    JOURNAL OF MANIPULATIVE AND PHYSIOLOGICAL THERAPEUTICS, 1995, 18 (03) : 168 - 171