ReviewNeuromolecular medicine2006
Unraveling the genetics of distal hereditary motor neuronopathies.
Review in Neuromolecular medicine, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 73 citations in OpenAlex.
- The Spectrum of Small Heat Shock Protein B8 (International journal of molecular sciences · 2025Review
- A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.BMC medical genomics · 2024Article
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Distal hereditary motor neuronopathy of the Jerash type is caused by a novelJournal of medical genetics · 2020Article
- Differentiating lower motor neuron syndromes.Journal of neurology, neurosurgery, and psychiatry · 2017Review
- Genetic heterogeneity of motor neuropathies.Neurology · 2017Article
- Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.Acta neuropathologica communications · 2017Article
- Article
- Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.Pediatric neurology · 2015Article
- Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Genes · 2014Article
- Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.European journal of human genetics : EJHG · 2012Article
- Update on Charcot-Marie-Tooth disease.Current neurology and neuroscience reports · 2011Review
- Pes cavus and hereditary neuropathies: when a relationship should be suspected.Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology · 2010Review
- Identification of the Drosophila ortholog of HSPB8: implication of HSPB8 loss of function in protein folding diseases.The Journal of biological chemistry · 2010Article
- Mutant HSPB8 causes motor neuron-specific neurite degeneration.Human molecular genetics · 2010Article
- Classification and diagnosis of the inherited neuropathies.Annals of Indian Academy of Neurology · 2009Article
- Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.Experimental & molecular medicine · 2008Article
- Genetics of motor neuron disease.Current neurology and neuroscience reports · 2006Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hereditary motor neuronopathies (HMN [MIM 158590]) are a heterogeneous group of disorders characterized by an exclusive involvement of the motor part of the peripheral nervous system. They are usually subdivided in proximal HMN, i.e., the classical spinal muscular atrophy syndromes and distal hereditary motor neuronopathies (distal HMN) that clinically resemble Charcot-Marie-Tooth syndromes. In this review, we concentrate on distal HMN. The distal HMN are clinically and genetically heterogeneous and were initially subdivided in seven subtypes according to mode of inheritance, age at onset, and clinical evolution. Recent studies have shown that these subtypes are still heterogeneous at the molecular genetic level and novel clinical and genetic entities have been delineated. Since the introduction of positional cloning, 13 chromosomal loci and seven disease-associated genes have been identified for autosomal-dominant, autosomal-recessive, and X-linked recessive distal HMN. Most of the genes involved encode protein with housekeeping functions, such as RNA processing, translation synthesis, stress response, apoptosis, and others code for proteins involved in retrograde survival. Motor neurons of the anterior horn of the spinal cord seems to be vulnerable to defects in these housekeeping proteins, likely because their large axons have higher metabolic requirements for maintenance, transport over long distances and precise connectivity. Understanding the molecular pathomechanisms for mutations in these genes that are ubiquitous expressed will help unravel the neuronal mechanisms that underlie motor neuropathies leading to denervation of distal limb muscles, and might generate new insights for future therapeutic strategies.
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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.