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- Title
A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
- Authors
Rossor, Alexander M.; Davidson, Gabrielle L.; Blake, Julian; Polke, James M.; Murphy, Sinéad M.; Houlden, Henry; Innes, Amy; Kalmar, Bernadett; Greensmith, Linda; Reilly, Mary M.
- Abstract
Mutations in the gene HSPB1, encoding the small heat shock protein 27 (HSP27), are a cause of distal hereditary motor neuropathy (dHMN) and axonal Charcot-Marie-Tooth disease (CMT2). dHMN and CMT2 are differentiated by the presence of a sensory neuropathy in the latter although in the case of HSPB1 this division is artificial as CMT2 secondary to HSPB1 mutations is predominantly a motor neuropathy with only minimal sensory involvement. A recent study in mice has suggested that mutations in the C-terminus result in a motor only phenotype resembling dHMN, whereas mutations at the N-terminus result in a CMT2-like phenotype. However, we present a family with a novel mutation in the C-terminus of HSP27 (p.Glu175X) with a motor predominant distal neuropathy but with definite sensory involvement compatible with CMT2. This case highlights the artificial distinction between patients with motor predominant forms of CMT2 and dHMN and argues against the hypothesis that mutations in the C-terminus have no sensory involvement.
- Subjects
CHARCOT-Marie-Tooth disease; DNA analysis; GENETIC mutation; NEURAL conduction; SEQUENCE analysis; DIAGNOSIS; GENETICS
- Publication
Journal of the Peripheral Nervous System, 2012, Vol 17, Issue 2, p201
- ISSN
1085-9489
- Publication type
Article
- DOI
10.1111/j.1529-8027.2012.00400.x