ReviewBrain : a journal of neurology2023
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Review in Brain : a journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 28 citations in OpenAlex.
- Variable phenotypic manifestations of two splice-site variants in DNAJB2: insights from two families and a systematic review.Journal of human genetics · 2026Article
- Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies.Journal of neuromuscular diseases · 2026Article
- Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.Genes · 2026Review
- Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series.Neurogenetics · 2026Article
- A class of deep intronicmedRxiv : the preprint server for health sciences · 2026Article
- Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.Journal of the peripheral nervous system : JPNS · 2026Article
- Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.Research square · 2026Article
- Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.medRxiv : the preprint server for health sciences · 2026Article
- DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders.Molecular genetics & genomic medicine · 2025Review
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.Italian journal of pediatrics · 2025Article
- Review
- Split Hand Syndrome in Charcot-Marie-Tooth Disease Type X1 (CMTX1): A Clinical, Neurophysiological, and Radiological Study.European journal of neurology · 2025Article
- Tongue Fasciculations and Upper Motor Neuron Signs in Infantile-Onset Type 2 Gaucher Disease.Indian journal of pediatrics · 2025Article
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.Genes · 2024Review
- RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.Brain : a journal of neurology · 2024Article
- The various forms of hereditary motor neuron disorders and their historical descriptions.Journal of neurology · 2024Review
- Molecular mechanisms and therapeutic strategies for neuromuscular diseases.Cellular and molecular life sciences : CMLS · 2024Review
- Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.Journal of neurology · 2024Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular disorders characterized by lower motor neuron dysfunction, slowly progressive length-dependent distal muscle weakness and atrophy, without sensory involvement. Their cumulative estimated prevalence is 2.14/100 000 and, to date, around 30 causative genes have been identified with autosomal dominant, recessive,and X-linked inheritance. Despite the advances of next generation sequencing, more than 60% of patients with HMN remain genetically uncharacterized. Of note, we are increasingly aware of the broad range of phenotypes caused by pathogenic variants in the same gene and of the considerable clinical and genetic overlap between HMN and other conditions, such as Charcot-Marie-Tooth type 2 (axonal), spinal muscular atrophy with lower extremities predominance, neurogenic arthrogryposis multiplex congenita and juvenile amyotrophic lateral sclerosis. Considering that most HMN present during childhood, in this review we primarily aim to summarize key clinical features of paediatric forms, including recent data on novel phenotypes, to help guide differential diagnosis and genetic testing. Second, we describe newly identified causative genes and molecular mechanisms, and discuss how the discovery of these is changing the paradigm through which we approach this group of conditions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.