Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

dc.creatorRodrigues, GR
dc.creatorWalker, RH
dc.creatorBader, B
dc.creatorDanek, A
dc.creatorBrice, A
dc.creatorCazeneuve, C
dc.creatorRussaouen, O
dc.creatorLopes-Cendess, I
dc.creatorMarques, W
dc.creatorTumas, V
dc.date2011
dc.dateJUN
dc.date2014-07-30T13:59:43Z
dc.date2015-11-26T17:38:11Z
dc.date2014-07-30T13:59:43Z
dc.date2015-11-26T17:38:11Z
dc.date.accessioned2018-03-29T00:19:46Z
dc.date.available2018-03-29T00:19:46Z
dc.identifierArquivos De Neuro-psiquiatria. Assoc Arquivos Neuro- Psiquiatria, v. 69, n. 3, n. 419, n. 423, 2011.
dc.identifier0004-282X
dc.identifierWOS:000292115600002
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/56012
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/56012
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1286132
dc.descriptionHuntington'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 choreaacanthocytosis (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.
dc.description69
dc.description3
dc.description419
dc.description423
dc.descriptionBayerische Forschungsstiftung
dc.descriptionGerman Federal Ministry of Research
dc.descriptionManchner Universitatsgesellschaft
dc.descriptionDeutsch-Franzosische Hochschulstiftung
dc.descriptionAdvocacy for Neuroacanthocytosis Patients
dc.languageen
dc.publisherAssoc Arquivos Neuro- Psiquiatria
dc.publisherSao Paulo Sp
dc.publisherBrasil
dc.relationArquivos De Neuro-psiquiatria
dc.relationArq. Neuro-Psiquiatr.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectHuntington's disease
dc.subjectHuntington's disease-like
dc.subjectchorea-acanthocytosis
dc.subjectHuntington's disease-like 2
dc.subjectTrinucleotide Repeat Expansions
dc.subjectSpinocerebellar Ataxia
dc.subjectChorea-acanthocytosis
dc.subjectCag Expansion
dc.subjectPhenocopies
dc.subjectHuntington-disease-like-2
dc.subjectJunctophilin-3
dc.subjectAtrophy
dc.titleClinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype
dc.typeArtículos de revistas


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