Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8
OBJECTIVE: To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes. METHOD: A total of 119 patients meeting clinical criteria for PD were evaluated. RESULTS: Of all patients studied, 13 had mutations...
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Thieme Revinter Publicações
2009-03-01
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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=S0004-282X2009000100003 |
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| author | Orlando G.P. Barsottini Andre C. Felício Patricia de Carvalho Aguiar Clecio Godeiro-Junior Ming C. Shih Marcelo Q. Hoexter Rodrigo A. Bressan Henrique B. Ferraz Luiz Augusto F. Andrade |
| author_facet | Orlando G.P. Barsottini Andre C. Felício Patricia de Carvalho Aguiar Clecio Godeiro-Junior Ming C. Shih Marcelo Q. Hoexter Rodrigo A. Bressan Henrique B. Ferraz Luiz Augusto F. Andrade |
| author_sort | Orlando G.P. Barsottini |
| collection | DOAJ |
| description | OBJECTIVE: To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes. METHOD: A total of 119 patients meeting clinical criteria for PD were evaluated. RESULTS: Of all patients studied, 13 had mutations in either PARK2 (n=9) or PARK8 genes (n=4). No statistically significant differences in clinical characteristics in both groups were seen. SPECT with [99mTc] TRODAT-1 showed significant differences between patient and control and the most remarkable difference was between PARK2 and control. CONCLUSION: The study found a frequency of mutation of 10.1% and it was most commonly seen in women. These patients had long disease course and high rates of dyskinesia after L-DOPA use. PARK8 patients did not have a relevant family history of PD.<br>OBJETIVO: Descrever as características clínicas e de neuroimagem (SPECT) de pacientes brasileiros com doença de Parkinson e mutações PARK2 e PARK8. MÉTODO: Foram avaliados 119 pacientes com critérios clínicos para a doença de Parkinson. RESULTADO: Entre os pacientes avaliados foram encontrados 13 pacientes com mutação nos genes PARK2 (n=9) ou PARK8 (n=4). Não houve diferença significativa na avaliação das características clínicas entre os dois grupos. Os resultados de SPECT mostraram diferenças significativas quanto ao potencial de ligação do [99mTc] TRODAT-1 SPECT entre pacientes vs. controle, sendo a diferença mais pronunciada entre PARK2 e controle. CONCLUSÃO: A freqüência de mutação encontrada foi 10,1%, sendo mais comum em mulheres. Estes pacientes apresentavam longo tempo de doença e alta prevalência de discinesias associadas ao uso da levodopa. Nossos pacientes com PARK8 não apresentaram uma história familiar relevante de doença de Parkinson. |
| format | Article |
| id | doaj-art-e048604db79b42d5a4e69cf04e1011e6 |
| institution | DOAJ |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 2009-03-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-e048604db79b42d5a4e69cf04e1011e62025-08-20T03:20:56ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42272009-03-0167171110.1590/S0004-282X2009000100003Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8Orlando G.P. BarsottiniAndre C. FelícioPatricia de Carvalho AguiarClecio Godeiro-JuniorMing C. ShihMarcelo Q. HoexterRodrigo A. BressanHenrique B. FerrazLuiz Augusto F. AndradeOBJECTIVE: To describe clinical and neuroimaging (SPECT) characteristics of Brazilian patients with Parkinson's disease (PD) and mutations in PARK2 or PARK8 genes. METHOD: A total of 119 patients meeting clinical criteria for PD were evaluated. RESULTS: Of all patients studied, 13 had mutations in either PARK2 (n=9) or PARK8 genes (n=4). No statistically significant differences in clinical characteristics in both groups were seen. SPECT with [99mTc] TRODAT-1 showed significant differences between patient and control and the most remarkable difference was between PARK2 and control. CONCLUSION: The study found a frequency of mutation of 10.1% and it was most commonly seen in women. These patients had long disease course and high rates of dyskinesia after L-DOPA use. PARK8 patients did not have a relevant family history of PD.<br>OBJETIVO: Descrever as características clínicas e de neuroimagem (SPECT) de pacientes brasileiros com doença de Parkinson e mutações PARK2 e PARK8. MÉTODO: Foram avaliados 119 pacientes com critérios clínicos para a doença de Parkinson. RESULTADO: Entre os pacientes avaliados foram encontrados 13 pacientes com mutação nos genes PARK2 (n=9) ou PARK8 (n=4). Não houve diferença significativa na avaliação das características clínicas entre os dois grupos. Os resultados de SPECT mostraram diferenças significativas quanto ao potencial de ligação do [99mTc] TRODAT-1 SPECT entre pacientes vs. controle, sendo a diferença mais pronunciada entre PARK2 e controle. CONCLUSÃO: A freqüência de mutação encontrada foi 10,1%, sendo mais comum em mulheres. Estes pacientes apresentavam longo tempo de doença e alta prevalência de discinesias associadas ao uso da levodopa. Nossos pacientes com PARK8 não apresentaram uma história familiar relevante de doença de Parkinson.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000100003doença de ParkinsonPARK2PARK8SPECTParkinson's diseasePARK2PARK8SPECT |
| spellingShingle | Orlando G.P. Barsottini Andre C. Felício Patricia de Carvalho Aguiar Clecio Godeiro-Junior Ming C. Shih Marcelo Q. Hoexter Rodrigo A. Bressan Henrique B. Ferraz Luiz Augusto F. Andrade Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8 Arquivos de Neuro-Psiquiatria doença de Parkinson PARK2 PARK8 SPECT Parkinson's disease PARK2 PARK8 SPECT |
| title | Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8 |
| title_full | Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8 |
| title_fullStr | Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8 |
| title_full_unstemmed | Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8 |
| title_short | Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes Características clínicas e de neuroimagem molecular de pacientes brasileiros com doença de Parkinson e mutações nos genes PARK2 ou PARK8 |
| title_sort | clinical and molecular neuroimaging characteristics of brazilian patients with parkinson s disease and mutations in park2 or park8 genes caracteristicas clinicas e de neuroimagem molecular de pacientes brasileiros com doenca de parkinson e mutacoes nos genes park2 ou park8 |
| topic | doença de Parkinson PARK2 PARK8 SPECT Parkinson's disease PARK2 PARK8 SPECT |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000100003 |
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