Nerve Biopsy Is Still Useful in Some Inherited Neuropathies

Abstract In hereditary neuropathies, next-generation sequencing techniques are producing a vast number of candidate gene mutations that need to be verified or excluded by careful genotype-phenotype correlation analysis. In most cases, clinical acumen is still important but needs to be combined with...

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Bibliographic Details
Published in:Journal of neuropathology and experimental neurology 2018-02, Vol.77 (2), p.88-99
Main Authors: Duchesne, Mathilde, Mathis, Stéphane, Richard, Laurence, Magdelaine, Corinne, Corcia, Philippe, Nouioua, Sonia, Tazir, Meriem, Magy, Laurent, Vallat, Jean-Michel
Format: Article
Language:English
Subjects:
Biopsy
Diagnosis
Gene mutations
Genetic aspects
Health aspects
Life Sciences
Methods
Mutation
Neuropathies, Hereditary motor and sensory
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Summary:Abstract In hereditary neuropathies, next-generation sequencing techniques are producing a vast number of candidate gene mutations that need to be verified or excluded by careful genotype-phenotype correlation analysis. In most cases, clinical acumen is still important but needs to be combined with data from nerve conduction studies and, in some cases, from nerve biopsy examinations. Indeed, characteristic clinical, electrophysiological, and sometimes pathological features may be suggestive of a particular subtype of Charcot-Marie-Tooth (CMT) disease. Microscopical (mainly ultrastructural) human nerve biopsy patterns may be related to CMT diseases and gene defects. Even today, it is important to recognize these characteristic lesions in the context of a chronic idiopathic neuropathy as they may help search for or reveal a sporadic form of CMT. In practice, these different types of lesions are often linked to the known function of the mutated genes. Only a few patients diagnosed or suspected as having a CMT disease need a nerve biopsy that can help find or confirm the causative gene mutation. The indication for this procedure should be based on a case-by-case discussion.
ISSN:0022-3069
1554-6578
DOI:10.1093/jnen/nlx111