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  • Title: Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson's disease.
    Author: Chien HF, Figueiredo TR, Hollaender MA, Tofoli F, Takada LT, Pereira Lda V, Barbosa ER.
    Journal: Arq Neuropsiquiatr; 2014 May; 72(5):356-9. PubMed ID: 24863511.
    Abstract:
    UNLABELLED: Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. METHOD: We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). RESULTS: No G2019S mutations were found in both patients with sporadic PD and controls. CONCLUSIONS: Our results may be explained by the relatively small sample size.
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