Navegando por Palavras-chave "PARK8"

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    Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes
    (Academia Brasileira de Neurologia - ABNEURO, 2009-03-01) Barsottini, Orlando Graziani Povoas [UNIFESP]; 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]; Hospital Israelita Albert Einstein Instituto Israelita de Ensino e Pesquisa; Universidade Federal de São Paulo (UNIFESP)
    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.
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    Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients
    (Wiley-Blackwell, 2008-07-15) Carvalho Aguiar, Patricia de [UNIFESP]; Lessa, Patricia Silva [UNIFESP]; Godeiro Junior, Clecio [UNIFESP]; Barsottini, Orlando [UNIFESP]; Felicio, Andre Carvalho [UNIFESP]; Borges, Vanderci [UNIFESP]; Azevedo Silva, Sonia Maria de [UNIFESP]; Saba, Roberta Arb [UNIFESP]; Ferraz, Henrique Ballalai [UNIFESP]; Moreira-Filho, Carlos A. [UNIFESP]; Andrade, Luiz Augusto Franco de [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors. in this study, we investigated Brazilian early-onset PD (EOPD) patients for mutations in PARK2 and PARK8, exposure to environmental factors and possible correlations between PARK2 polymorphisms, environmental exposure, and disease age of onset. We enrolled 72 EOPD index patients and 81 healthy volunteers. Both groups were investigated for environmental exposure. EOPD patients were screened for PARK2 and PARK8 mutations. PARK2 coding polymorphisms Ser167Asn and Va1380Leu were investigated in both groups. Mutations were present in 18% of the patients and in 32% of those with a positive family history. PARK2 mutations represented 12.5% and PARK8 mutations accounted for 5.5% of the mutations. A novel PARK2 mutation (D53X) was identified in 2 patients. A positive correlation was found between EOPD and well water drinking. in patients exposed to well water, a later age of onset was observed for those who carried at least one PARK2 380Leu allele. PARK2 mutations have an important role in EOPD Brazilian patients and PARK8 might be the second most important disease causing gene in this group. Well water drinking exposure represents a risk factor for EOPD and the PARK2 coding polymorphism Va1380Leu might be interacting with environmental factors acting as a disease modifier. (C) 2008 Movement Disorder Society.
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    Olfactory Heterogeneity in LRRK2 Related Parkinsonism
    (Wiley-Blackwell, 2010-12-15) Silveira-Moriyama, Laura; Munhoz, Renato Pupi; Carvalho, Margarete de J.; Raskin, Salmo; Rogaeva, Ekaterina; Aguiar, Patricia de C.; Bressan, Rodrigo A. [UNIFESP]; Felicio, Andre C. [UNIFESP]; Barsottini, Orlando G. P. [UNIFESP]; Andrade, Luiz Augusto Franco de [UNIFESP]; Chien, Hsin F.; Bonifati, Vincenzo; Barbosa, Egberto R.; Teive, Helio A.; Lees, Andrew J.; UCL; Univ Fed Parana; Universidade de São Paulo (USP); Univ Toronto; Hosp Israelita Albert Einstein; Universidade Federal de São Paulo (UNIFESP); Erasmus MC
    LRRK2 mutations can cause familial and sporadic Parkinson's disease (PD) with Lewy-body pathology at post-mortem. Studies of olfaction in LRRK2 are sparse and incongruent. We applied a previously validated translation of the 16 item smell identification test from Sniffin' Sticks (SS-16) to 14 parkinsonian carriers of heterozygous G2019S LRRK2 mutation and compared with 106 PD patients and 118 healthy controls. the mean SS-16 score in LRRK2 was higher than in PD (p < 0.001, 95% CI for beta = -4.7 to -1.7) and lower than in controls (p = 0.007, 95% CI for beta = +0.6 to +3.6). in the LRRK2 group, subjects with low scores had significantly more dyskinesia. They also had younger age of onset, longer disease duration, and reported less frequently a family history of PD, but none of these other differences reached significance. Odor identification is diminished in LRRK2 parkinsonism but not to the same extent as in idiopathic PD. (C) 2010 Movement Disorder Society