Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease

Arquivos de Neuro-Psiquiatria

Hsin Fen Chien¹  Tamires Rocha Figueiredo¹  Marianna Almeida Hollaender¹  Fabiano Tofoli¹  Leonel Takao Takada¹  Lygia Da Veiga Pereira¹  Egberto Reis Barbosa¹ 

关键词: Parkinson's disease;    LRRK2;    genetics;    doença de Parkinson;    LRRK2;    genética;   

DOI  :  10.1590/0004-282X20140019

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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