{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T10:45:10Z","timestamp":1788259510394,"version":"build-2803163510"},"reference-count":10,"publisher":"FapUNIFESP (SciELO)","issue":"3B","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2001,9]]},"abstract":"<jats:p>Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.<\/jats:p>","DOI":"10.1590\/s0004-282x2001000500030","type":"journal-article","created":{"date-parts":[[2005,4,15]],"date-time":"2005-04-15T14:29:43Z","timestamp":1113575383000},"page":"809-811","source":"Crossref","is-referenced-by-count":16,"title":["Machado-Joseph disease versus hereditary spastic paraplegia: case report"],"prefix":"10.1590","volume":"59","author":[{"given":"H\u00e9lio A. Ghizoni","family":"Teive","sequence":"first","affiliation":[{"name":"Federal University of Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio Massaiti","family":"Iwamoto","sequence":"additional","affiliation":[{"name":"Federal University of Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Henrique","family":"Camargo","sequence":"additional","affiliation":[{"name":"Federal University of Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iscia","family":"Lopes-Cendes","sequence":"additional","affiliation":[{"name":"UNICAMP,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lineu Cesar","family":"Werneck","sequence":"additional","affiliation":[{"name":"Federal University of Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1212\/WNL.46.1.214","article-title":"Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease in a large group of spinocerebellar ataxia patients","volume":"46","author":"Silveira I","year":"1996","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"2048","DOI":"10.1212\/WNL.42.10.2048","article-title":"Research initiatives on Machado-Joseph disease: National Institute of Neurological Disorders and Stroke Workshop summary","volume":"42","author":"Spinella GM","year":"1992","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref3","first-page":"846","article-title":"Machado-Joseph disease: A proposal of spastic paraplegic subtype","volume":"46","author":"Sakai T","year":"1996","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng1194-221","article-title":"CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32","volume":"8","author":"Kawaguchi Y","year":"1994","journal-title":"1. 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