Strategy for genetic analysis in hereditary neuropathy

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...

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Bibliographic Details
Published in:Revue neurologique 2023-01, Vol.179 (1-2), p.10-29
Main Authors: Masingue, M., Fernández-Eulate, G., Debs, R., Tard, C., Labeyrie, C., Leonard-Louis, S., Dhaenens, C.-M., Masson, M.A., Latour, P., Stojkovic, T.
Format: Article
Language:English
Subjects:
Amyloidosis
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease - diagnosis
Charcot-Marie-Tooth Disease - genetics
Genome
Hereditary Sensory and Motor Neuropathy - diagnosis
Hereditary Sensory and Motor Neuropathy - genetics
Humans
Inborn error of metabolism
Inherited neuropathy
Life Sciences
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Summary: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.
ISSN:0035-3787
DOI:10.1016/j.neurol.2022.11.007