{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:30:11Z","timestamp":1779931811820,"version":"3.53.1"},"reference-count":29,"publisher":"FapUNIFESP (SciELO)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:p>Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3% of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.<\/jats:p>","DOI":"10.1590\/s0004-282x2011000400002","type":"journal-article","created":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T16:34:26Z","timestamp":1310056466000},"page":"419-423","source":"Crossref","is-referenced-by-count":18,"title":["Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype"],"prefix":"10.1590","volume":"69","author":[{"given":"Guilherme Riccioppo","family":"Rodrigues","sequence":"first","affiliation":[{"name":"University of S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth H.","family":"Walker","sequence":"additional","affiliation":[{"name":"Mount Sinai School of Medicine, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Bader","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-Universit\u00e4t, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Danek","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-Universit\u00e4t, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[{"name":"Assistance Publique; H\u00f4pitaux de Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Cazeneuve","sequence":"additional","affiliation":[{"name":"Assistance Publique; H\u00f4pitaux de Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Russaouen","sequence":"additional","affiliation":[{"name":"Assistance Publique; H\u00f4pitaux de Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iscia","family":"Lopes-Cendes","sequence":"additional","affiliation":[{"name":"University of Campinas, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilson","family":"Marques Jr.","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vitor","family":"Tumas","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1212\/WNL.51.1.215","article-title":"Patients with features similar to Huntington's disease, without CAG expansion in huntingtin","volume":"51","author":"Rosenblatt 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