The various forms of hereditary motor neuron disorders and their historical descriptions.

Gwendal Le Masson, Stéphane Mathis, Diane Beauvais, Fanny Duval, Guilhem Solé

Journal: Journal of neurology 2024;271(7):3978-3990

PMID: 38816479

Abstract

Motor neuron disorders comprise a clinically and pathologically heterogeneous group of neurologic diseases characterized by progressive degeneration of motor neurons (including both sporadic and hereditary diseases), affecting the upper motor neurons, lower motor neurons, or both. Hereditary motor neuron disorders themselves represent a vast and heterogeneous group, with numerous clinical and genetic overlaps that can be a source of error. This narrative review aims at providing an overview of the main types of inherited motor neuron disorders by recounting the stages in their historical descriptions. For practical purposes, this review of the literature sets out their various clinical characteristics and updates the list of all the genes involved in the various forms of inherited motor neuron disorders, including spinal muscular atrophy, familial amyotrophic lateral sclerosis, hereditary spastic paraplegia, distal hereditary motor neuropathies/neuronopathies, Kennedy's disease, riboflavin transporter deficiencies, VCPopathy and the neurogenic scapuloperoneal syndrome.

Address: Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) of Bordeaux (Pellegrin Hospital), Place Amélie Raba Léon, 3300, Bordeaux, France. [email protected].; ALS Reference Center, Nerve-Muscle Unit, University Hospital (CHU) of Bordeaux (Pellegrin Hospital), Place Amélie Raba Léon, 3300, Bordeaux, France. [email protected].; Reference Center for Neuromuscular Diseases 'AOC', University Hospitals of Bordeaux (Pellegrin Hospital), University of Bordeaux, FILNEMUS, Euro-NMD, Bordeaux, France. [email protected].; Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) of Bordeaux (Pellegrin Hospital), Place Amélie Raba Léon, 3300, Bordeaux, France.; ALS Reference Center, Nerve-Muscle Unit, University Hospital (CHU) of Bordeaux (Pellegrin Hospital), Place Amélie Raba Léon, 3300, Bordeaux, France.; Reference Center for Neuromuscular Diseases 'AOC', University Hospitals of Bordeaux (Pellegrin Hospital), University of Bordeaux, FILNEMUS, Euro-NMD, Bordeaux, France.; Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) of Bordeaux (Pellegrin Hospital), Place Amélie Raba Léon, 3300, Bordeaux, France.; Reference Center for Neuromuscular Diseases 'AOC', University Hospitals of Bordeaux (Pellegrin Hospital), University of Bordeaux, FILNEMUS, Euro-NMD, Bordeaux, France.

DOI: 10.1007/s00415-024-12462-6

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https://dx.doi.org/10.1007/s00415-024-12462-6

MeSH Terms: Humans, Motor Neuron Disease, History, 20th Century, History, 19th Century, Spastic Paraplegia, Hereditary