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.
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