ArticleExperimental & molecular medicine2008
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.
Article in Experimental & molecular medicine, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 35 citations in OpenAlex.
- Article
- Insights Into the Role of Heat Shock Protein 27 in the Development of Neurodegeneration.Frontiers in molecular neuroscience · 2022Review
- Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.Annals of clinical and translational neurology · 2021Article
- Texture analysis using T1-weighted images for muscles in Charcot-Marie-Tooth disease patients and volunteers.European radiology · 2021Article
- Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.Annals of clinical and translational neurology · 2021Article
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- Small heat shock proteins in neurodegenerative diseases.Cell stress & chaperones · 2020Review
- Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.Brain research · 2020Review
- HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.Experimental neurology · 2017Article
- Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.Neuromuscular disorders : NMD · 2017Article
- Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.Frontiers in molecular biosciences · 2016Review
- Overexpression of mutant HSP27 causes axonal neuropathy in mice.Journal of biomedical science · 2015Article
- A review of genetic counseling for Charcot Marie Tooth disease (CMT).Journal of genetic counseling · 2013Review
- Inherited peripheral neuropathies.Neurologic clinics · 2013Review
- Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.Neurobiology of disease · 2012Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities. Recently, mutations in the small heat shock protein 27 (HSP27) gene were found to cause dHMN type II or Charcot-Marie-Tooth disease type 2F (CMT2F). The authors studied 151 Korean axonal CMT or dHMN families, and found a large Korean dHMN type II family with the Ser135Phe mutation in HSP27. This mutation was inherited in an autosomal dominant manner, and was well associated with familial members with the dHMN phenotype. This mutation site is located in the alpha-crystallin domain and is highly conserved between different species. The frequency of this HSP27 mutation in Koreans was 0.6%. Magnetic resonance imaging analysis revealed that fatty infiltrations tended to progressively extend distal to proximal muscles in lower extremities. In addition, fatty infiltrations in thigh muscles progressed to affect posterior and anterior compartments but to lesser extents in medial compartment, which differs from CMT1A patients presenting with severe involvements of posterior and medial compartments but less involvement of anterior compartment. The authors describe the clinical and neuroimaging findings of the first Korean dHMN patients with the HSP27 Ser135Phe mutation. To our knowledge, this is the first report of the neuroimaging findings of dHMN type II.
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