ArticleNeuromuscular disorders : NMD2017
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
Article in Neuromuscular disorders : NMD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 37 citations in OpenAlex.
- Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.Journal of the peripheral nervous system : JPNS · 2026Article
- Research Trends and Insights of Charcot-Marie-Tooth Disease (CMT): A Visualization Analysis (2000-2025).Health science reports · 2026Article
- Review
- Article
- Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation inBiomolecules · 2022Article
- Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.Scientific reports · 2022Article
- Charcot-Marie-Tooth disease type 2CC due toJournal of neurology, neurosurgery, and psychiatry · 2022Observational
- Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.Annals of clinical and translational neurology · 2021Article
- Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.Annals of clinical and translational neurology · 2021Article
- Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.Annals of clinical and translational neurology · 2021Article
- [Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2021Article
- Small heat shock proteins in neurodegenerative diseases.Cell stress & chaperones · 2020Review
- Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.International journal of molecular sciences · 2020Review
- Differentially methylated gene patterns between age-matched sarcopenic and non-sarcopenic women.Journal of cachexia, sarcopenia and muscle · 2019Article
- Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.Nature reviews. Neurology · 2019Review
- Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.Journal of the peripheral nervous system : JPNS · 2018Article
- HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.Experimental neurology · 2017Article
- Homozygous mutation inNeurology. Genetics · 2017Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in HSPB1 are one of the commonest causes of distal Hereditary Motor Neuropathy (dHMN). Transgenic mouse models of the disease have identified HDAC6 inhibitors as promising treatments for the condition paving the way for human trials. A detailed phenotype and natural history study of HSPB1 neuropathy is therefore required in order to inform the duration and outcome measures of any future trials. Clinical and neurophysiological data and lower limb muscle MRI were collected both prospectively and retrospectively from patients with mutations in HSPB1. The natural history was assessed by recording the weighted Charcot-Marie-Tooth Examination Score (CMTES) at annual intervals in a subset of patients. 20 patients from 14 families were recruited into the study. The average age of onset was in the 4th decade. Patients presented with a length dependent neuropathy but with early ankle plantar flexion weakness. Neurophysiology confirmed a motor neuropathy but also showed sensory nerve involvement in most patients. Cross sectional muscle MRI revealed soleus and medial gastrocnemius fat infiltration as an early signature of mutant HSPB1 disease. In this study neither semi quantitative muscle MRI, the CMTES nor neurophysiology were able to detect disease progression in HSPB1 neuropathy over 1 or 2 years. Further studies are therefore required to identify a suitable biomarker before clinical trials in HSPB1 neuropathy can be undertaken.
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