Genetic analysis strategy in hereditary neuropathies

French clinicians, aiming to guide the genetic diagnosis of patients with hereditary peripheral neuropathy, have outlined in a review the clinical and neurophysiological aspects as well as the potential treatments of these diseases.

Indeed, hereditary neuropathies are a heterogeneous group of disorders affecting the motor, sensory and/or autonomic nerves, the diagnosis of which can be complex. Thus, while peripheral neuropathy is the main component of a disease such as Charcot-Marie-Tooth, it can sometimes be indicative of a multisystem disease involving the central nervous system and other organs.

Hereditary neuropathies discussed in this review include Charcot-Marie-Tooth disease, hereditary sensory and dysautonomic neuropathies, hereditary amyloidosis, hereditary metabolic diseases, neuropathies in spastic paraparesis and spinocerebellar ataxias, etc.

 

Strategy for genetic analysis in hereditary neuropathy. Masingue M, Fernández-Eulate G, Debs R, Tard C, Labeyrie C, Leonard-Louis S, Masson MA, Latour P, Stojkovic T. Rev Neurol (Paris). 2022 Dec 22:S0035-3787(22)00846-3. doi: 10.1016/j.neurol.2022.11.007. Online ahead of print. PMID: 36566124 Review.