{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:27:35Z","timestamp":1791098855769,"version":"4.1.0"},"reference-count":18,"publisher":"FapUNIFESP (SciELO)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:p>We assessed the functional impairment in Charcot-Marie-Tooth resulting from 17p11.2-p12 duplication (CMT1A) patients using the Short-Form Health Survey (SF-36), which is a quality of life questionnaire. Twenty-five patients of both genders aged \u226510 years with a positive molecular diagnosis of CMT1A were selected. Age- and gender-matched Control Group (without family history of neuropathy), and the sociodemographic and professional conditions similar to the patients' group were selected to compare the SF-36 results between them. The results showed that the majority quality of life impairments in CMT1A patients occurred in the social and emotional domains. Functional capacity also tended to be significantly affected; other indicators of physical impairment were preserved. In conclusion, social and emotional aspects are mostly neglected in the assistance provided to CMT1A Brazilian patients, and they should be better understood in order to offer global health assistance with adequate quality of life as a result.<\/jats:p>","DOI":"10.1590\/0004-282x20130045","type":"journal-article","created":{"date-parts":[[2013,8,14]],"date-time":"2013-08-14T16:27:00Z","timestamp":1376497620000},"page":"392-396","source":"Crossref","is-referenced-by-count":9,"title":["Quality of life in patients with Charcot-Marie-Tooth disease type 1A"],"prefix":"10.1590","volume":"71","author":[{"given":"Juliana B.","family":"Taniguchi","sequence":"first","affiliation":[{"name":"Universidade de Sao Paulo,  Brazil; Universidade Estadual Paulista Julio de Mesquita Filho,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria M.C.","family":"Elui","sequence":"additional","affiliation":[{"name":"Universidade de Sao Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia L.","family":"Osorio","sequence":"additional","affiliation":[{"name":"Universidade de Sao Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime E.C.","family":"Hallak","sequence":"additional","affiliation":[{"name":"Universidade de Sao Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose A.S.","family":"Crippa","sequence":"additional","affiliation":[{"name":"Universidade de Sao Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joao P.","family":"Machado-de-Sousa","sequence":"additional","affiliation":[{"name":"Universidade de Sao Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo M.","family":"Kebbe","sequence":"additional","affiliation":[{"name":"Universidade de Sao Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles M.","family":"Lourenco","sequence":"additional","affiliation":[{"name":"Universidade de Sao Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel M.","family":"Scarel-Caminaga","sequence":"additional","affiliation":[{"name":"Universidade Estadual Paulista Julio de Mesquita Filho,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilson","family":"Marques Jr","sequence":"additional","affiliation":[{"name":"Universidade de Sao Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1136\/jnnp.62.4.310","article-title":"Epidemiology of peripheral neuropathy","volume":"62","author":"Martyn CN","year":"1997","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1093\/brain\/120.3.465","article-title":"The phenotypic manifestations of chromosome 17p11.2 duplication","volume":"120","author":"Thomas PK","year":"1997","journal-title":"Brain"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1007\/s00415-005-0797-9","article-title":"17p duplicated Charcot Marie Tooth 1A","volume":"252","author":"Marques W","year":"2005","journal-title":"J Neurol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1212\/01.wnl.0000181027.21574.df","article-title":"Charcot-Marie-Toth disease impairs quality of life: why? 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Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study","volume":"27","author":"Padua L","year":"2006","journal-title":"Neurol Sci"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.nmd.2007.11.008","article-title":"Natural history of CMT1A including QoL: a 2-year prospective study","volume":"18","author":"Padua L","year":"2008","journal-title":"Neuromusc Disord"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/s10072-008-0928-z","article-title":"Italian CMT QoL Study Group. 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