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PubMed · 14714050

[Hereditary neuropathies].

Svein Ivar Mellgren·Christian Vedeler
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Abstract

BACKGROUND: Hereditary neuropathies constitute a heterogeneous group of diseases that make up a significant proportion of peripheral nerve disease cases. MATERIAL AND METHODS: The paper is based on a review of recent literature, including searches on Medline, and our own clinical and research experience. RESULTS: Charcot-Marie-Tooth disease, itself a heterogeneous disease, is the most common hereditary neuropathy. Several variants of neuropathy are associated with hereditary metabolic disorders. Diagnostic methods include nerve conduction velocity studies and electromyography, quantitative sensory testing, molecular genetic diagnostic testing, and in selected cases processing of nerve biopsies and skin biopsies for determination of epidermal nerve fibre densities. INTERPRETATION: A thorough family history of neuropathic symptoms and signs, and preferably clinical and electrophysiological examination of relatives is essential for the diagnosis of hereditary neuropathy. Molecular genetic analysis is promising for accurate classification of these diseases. Nerve biopsy is only helpful in selected cases.

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Charcot-Marie-Tooth DiseaseHereditary Sensory and Autonomic NeuropathiesHumansMolecular Diagnostic TechniquesEnglish AbstractJournal ArticleReview

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Svein Ivar Mellgren, Christian Vedeler. 2003-09-25. [Hereditary neuropathies].. https://pubmed.ncbi.nlm.nih.gov/14714050/

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PubMed2007

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

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PubMed2006

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

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