Article Dans Une Revue (Article De Synthèse) Revue Neurologique Année : 2022

Strategy for genetic analysis in hereditary neuropathy

Résumé

Inherited neuropathies are a heterogeneous group of slowly progressive disorders affecting either motor, sensory, and/or autonomic nerves. Peripheral neuropathy may be the major component of a disease such as Charcot-Marie-Tooth disease or a feature of a more complex multisystemic disease involving the central nervous system and other organs. The goal of this review is to provide the clinical clues orientating the genetic diagnosis in a patient with inherited peripheral neuropathy. This review focuses on primary inherited neuropathies, amyloidosis, inherited metabolic diseases, while detailing clinical, neurophysiological and potential treatment of these diseases.

Dates et versions

hal-04894025 , version 1 (17-01-2025)

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Citer

Marion Masingue, Gorka Fernández-Eulate, Rabab Debs, Celine Tard, Celine Labeyrie, et al.. Strategy for genetic analysis in hereditary neuropathy. Revue Neurologique, 2022, Revue Neurologique, 179 (1-2), pp.10-29. ⟨10.1016/j.neurol.2022.11.007⟩. ⟨hal-04894025⟩
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