Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes

• Autor(a) principal: Barsottini, Orlando Graziani Povoas [UNIFESP]
• Data de Publicação: 2009
• Outros Autores: Felício, André Carvalho [UNIFESP], Aguiar, Patricia de Carvalho [UNIFESP], Godeiro-Junior, Clecio [UNIFESP], Shih, Ming C. [UNIFESP], Hoexter, Marcelo Queiroz [UNIFESP], Bressan, Rodrigo Affonseca [UNIFESP], Ferraz, Henrique B. [UNIFESP], Andrade, Luiz Augusto Franco de [UNIFESP]
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0004-282X2009000100003; http://repositorio.unifesp.br/handle/11600/4908
• topic: Parkinson's disease; PARK2; PARK8; SPECT; doença de Parkinson; PARK2; PARK8; SPECT

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.