| Phenotype expression in women with CMT1X. | |
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MedLine Citation:
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PMID: 21692908 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Charcot-Marie-Tooth disease type 1X (CMT1X) is the second most common inherited peripheral neuropathy. Women with CMT1X typically have a less severe phenotype than men, perhaps because of X-inactivation patterns. Our objective was to determine the phenotype of women with CMT1X and whether X-inactivation patterns in white blood cells (WBCs) differ between females with CMT1X and controls. Thirty-one women with CMT1X were evaluated using the CMT neuropathy score (CMTNS) and the CMT symptom score in cross-sectional and longitudinal analyses. Lower scores correspond to less disability. WBCs were analyzed for X-inactivation pattern by androgen receptor X-inactivation assay in 14 patients and 23 controls. The 31 women's mean CMTNS was 8.35. Two-thirds of the cohort had a mild CMTNS (mean 4.85) and one-third had a moderate CMTNS (mean 14.73). Three patients had a CMTNS of 0. The pattern of X-inactivation did not differ between the affected and control groups. Women with CMT1X presented with variable impairment independent of age, type of mutation, or location of mutation. No evidence supported the presence of a gap junction beta-1 (GJB1) mutation affecting the pattern of X-inactivation in blood. Further studies are planned to determine whether X-inactivation is the mechanism for CMT1X females' variable phenotypes. |
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Authors:
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Carly E Siskind; Sinéad M Murphy; Richard Ovens; James Polke; Mary M Reilly; Michael E Shy |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of the peripheral nervous system : JPNS Volume: 16 ISSN: 1529-8027 ISO Abbreviation: J. Peripher. Nerv. Syst. Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-06-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9704532 Medline TA: J Peripher Nerv Syst Country: United States |
Other Details:
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Languages: eng Pagination: 102-7 Citation Subset: IM |
Copyright Information:
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© 2011 Peripheral Nerve Society. |
Affiliation:
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Department of Neurology, Wayne State University, Detroit, MI, USA MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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