Hereditary Motor Neuropathies and Amyotrophic Lateral Sclerosis: a Molecular and Clinical Update

• Published in: Current neurology and neuroscience reports Vol. 18; no. 12; pp. 93 - 10
• Main Authors: Garcia-Santibanez, Rocio, Burford, Matthew, Bucelli, Robert C.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.12.2018; Springer Nature B.V
• Subjects: Amyotrophic lateral sclerosis; Biomarkers; Clinical trials; Medicine; Medicine & Public Health; Molecular modelling; Nerve and Muscle (L H Weimer; Neurology; Neuropathy; Neurosciences; Section Editor; Topical Collection on Nerve and Muscle; Amyotrophic lateral sclerosis; Antisense oligonucleotides; Edaravone; Hereditary motor neuropathy; C9orf72; SOD1
• ISSN: 1528-4042; 1534-6293
• DOI: 10.1007/s11910-018-0901-z

Purpose of Review This article provides an overview of recent advancements in the fields of hereditary motor neuropathies and ALS. Recent Findings There has been a robust growth in our knowledge and understanding of hereditary and degenerative motor neuronopathies/neuropathies over the last decade. Many breakthroughs in the field of hereditary motor neuropathies (HMN) have been associated with identification and characterization of the genes and molecular mechanisms underlying these disorders. Similar recent breakthroughs on the genetic and molecular underpinnings of the degenerative motor neuronopathy, amyotrophic lateral sclerosis (ALS), have been accompanied by advancements in biomarker research and the development and FDA approval of novel therapies. Summary There is a reasonable hope that the marked and continued growth in our understanding of the molecular pathophysiology of the HMNs will translate into novel therapeutic approaches in the decade to come. Such breakthroughs have already begun in ALS, where novel biomarkers and treatment strategies have translated into a new FDA-approved therapy with a number of promising agents in development and/or in definitive phase 2/3 trials.