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Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)
  1. P A James1,
  2. J Rankin3,
  3. K Talbot1,2
  1. 1
    MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK
  2. 2
    Department of Clinical Neurology, University of Oxford, Oxford, UK
  3. 3
    Department of Genetics, Royal Devon and Exeter Hospital, Exeter, UK
  1. Dr K Talbot, Department of Clinical Neurology, John Radcliffe Hospital, Oxford OX3 9DU, UK; kevin.talbot{at}clneuro.ox.ac.uk

Abstract

Distal hereditary motor neuropathy, also known as distal spinal muscular atrophy, is characterised by slowly progressive weakness and wasting of the hands and feet and has a heterogeneous genetic basis. One form of distal hereditary motor neuropathy is associated with mutations in the gene for the small heat shock protein HSPB1 (hsp27). Families have been described in which slowly progressive, symmetrical, lower limb predominant motor weakness is usually evident by middle age. Here we report a novel mutation, G84R, in an elderly patient presenting with strikingly asymmetrical weakness. Expression of this and other known mutations in cell culture demonstrated enhanced aggregation of mutant HSPB1 protein compared with wild-type.

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Footnotes

  • Funding: This work was funded by grants from the Jennifer Trust for Spinal Muscular Atrophy, the Medical Research Council and a Nuffield Fellowship (PJ).

  • Competing interests: None.

  • Ethics approval: The study was conducted with full local ethics committee approval.

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