Hdl Handle:
http://hdl.handle.net/10147/254553
Title:
Phenotype expression in women with CMT1X.
Authors:
Siskind, Carly E; Murphy, Sinéad M; Ovens, Richard; Polke, James; Reilly, Mary M; Shy, Michael E
Affiliation:
Department of Neurology, Wayne State University, Detroit, MI 48201, USA. csiskind@med.wayne.edu
Citation:
Phenotype expression in women with CMT1X. 2011, 16 (2):102-7 J. Peripher. Nerv. Syst.
Publisher:
Journal of the peripheral nervous system : JPNS
Journal:
Journal of the peripheral nervous system : JPNS
Issue Date:
Jun-2011
URI:
http://hdl.handle.net/10147/254553
DOI:
10.1111/j.1529-8027.2011.00332.x
PubMed ID:
21692908
Abstract:
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.
Item Type:
Article
Language:
en
MeSH:
Adolescent; Adult; Aged; Aged, 80 and over; Charcot-Marie-Tooth Disease; Child; Electrophysiology; Female; Genetic Diseases, X-Linked; Humans; Middle Aged; Neural Conduction; Pedigree; Phenotype; X Chromosome Inactivation; Young Adult
ISSN:
1529-8027

Full metadata record

DC FieldValue Language
dc.contributor.authorSiskind, Carly Een_GB
dc.contributor.authorMurphy, Sinéad Men_GB
dc.contributor.authorOvens, Richarden_GB
dc.contributor.authorPolke, Jamesen_GB
dc.contributor.authorReilly, Mary Men_GB
dc.contributor.authorShy, Michael Een_GB
dc.date.accessioned2012-12-05T10:14:52Z-
dc.date.available2012-12-05T10:14:52Z-
dc.date.issued2011-06-
dc.identifier.citationPhenotype expression in women with CMT1X. 2011, 16 (2):102-7 J. Peripher. Nerv. Syst.en_GB
dc.identifier.issn1529-8027-
dc.identifier.pmid21692908-
dc.identifier.doi10.1111/j.1529-8027.2011.00332.x-
dc.identifier.urihttp://hdl.handle.net/10147/254553-
dc.description.abstractCharcot-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.en_GB
dc.language.isoenen
dc.publisherJournal of the peripheral nervous system : JPNSen_GB
dc.rightsArchived with thanks to Journal of the peripheral nervous system : JPNSen_GB
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshAged-
dc.subject.meshAged, 80 and over-
dc.subject.meshCharcot-Marie-Tooth Disease-
dc.subject.meshChild-
dc.subject.meshElectrophysiology-
dc.subject.meshFemale-
dc.subject.meshGenetic Diseases, X-Linked-
dc.subject.meshHumans-
dc.subject.meshMiddle Aged-
dc.subject.meshNeural Conduction-
dc.subject.meshPedigree-
dc.subject.meshPhenotype-
dc.subject.meshX Chromosome Inactivation-
dc.subject.meshYoung Adult-
dc.titlePhenotype expression in women with CMT1X.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology, Wayne State University, Detroit, MI 48201, USA. csiskind@med.wayne.eduen_GB
dc.identifier.journalJournal of the peripheral nervous system : JPNSen_GB
dc.description.provinceLeinsteren

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