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Article

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

Neuromuscular disorders : NMD - 1 Jan 2017

Rossor Alexander M, Morrow Jasper M, Polke James M, Murphy Sinead M, Houlden Henry, Laura Matilde, Manji Hadi, Blake Julian, Reilly Mary M

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27816334
DOI: 10.1016/j.nmd.2016.10.001
PMCID: PMC5260843

Genes

HSPB1
HDAC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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