Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype
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...
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| Format: | Article |
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Thieme Revinter Publicações
2011-06-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400002&lng=en&tlng=en |
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| author | Guilherme Riccioppo Rodrigues Ruth H. Walker Benedikt Bader Adrian Danek Alexis Brice Cécile Cazeneuve Odile Russaouen Iscia Lopes-Cendes Wilson Marques Jr. Vitor Tumas |
| author_facet | Guilherme Riccioppo Rodrigues Ruth H. Walker Benedikt Bader Adrian Danek Alexis Brice Cécile Cazeneuve Odile Russaouen Iscia Lopes-Cendes Wilson Marques Jr. Vitor Tumas |
| author_sort | Guilherme Riccioppo Rodrigues |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e53ede2eaeef42018ebb0d9107df1c14 |
| institution | Kabale University |
| issn | 1678-4227 |
| language | English |
| publishDate | 2011-06-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-e53ede2eaeef42018ebb0d9107df1c142025-08-20T03:26:20ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272011-06-0169341942310.1590/S0004-282X2011000400002S0004-282X2011000400002Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotypeGuilherme Riccioppo Rodrigues0Ruth H. Walker1Benedikt Bader2Adrian Danek3Alexis Brice4Cécile Cazeneuve5Odile Russaouen6Iscia Lopes-Cendes7Wilson Marques Jr.8Vitor Tumas9Universidade de São PauloIcahn School of Medicine at Mount SinaiLudwig Maximilians Universität MünchenLudwig Maximilians Universität MünchenAssistance PubliqueAssistance PubliqueAssistance PubliqueUniversidade Estadual de CampinasUniversidade de São PauloUniversidade de São PauloHuntington'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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400002&lng=en&tlng=endoença de Huntingtondoença de Huntington-símilecoreo-acantocitosedoença de Huntington-símile 2 |
| spellingShingle | Guilherme Riccioppo Rodrigues Ruth H. Walker Benedikt Bader Adrian Danek Alexis Brice Cécile Cazeneuve Odile Russaouen Iscia Lopes-Cendes Wilson Marques Jr. Vitor Tumas Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype Arquivos de Neuro-Psiquiatria doença de Huntington doença de Huntington-símile coreo-acantocitose doença de Huntington-símile 2 |
| title | Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype |
| title_full | Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype |
| title_fullStr | Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype |
| title_full_unstemmed | Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype |
| title_short | Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype |
| title_sort | clinical and genetic analysis of 29 brazilian patients with huntington s disease like phenotype |
| topic | doença de Huntington doença de Huntington-símile coreo-acantocitose doença de Huntington-símile 2 |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400002&lng=en&tlng=en |
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