Abstract:
:In the last decade, several genes have been linked to Parkinson's disease (PD), including GIGYF2, ATP13A2 and GBA. To explore whether mutations in these genes contribute to development of PD in the Brazilian population, we screened 110 patients with early-onset PD. No clearly pathogenic mutations were identified in ATP13A2 and GIGYF2. In contrast, we identified a significantly higher frequency of known pathogenic mutations in GBA gene among the PD cases (6/110=5.4%) when compared to the control group (0/155) (P=0.0047). Our results strongly support an association between GBA gene mutations and an increased risk of PD. Mutations in GIGYF2 and ATP13A2 do not seem to represent a risk factor to the development of PD in the Brazilian population. Considering the scarcity of studies on GIGYF2, ATP13A2 and GBA mutation frequency in Latin American countries, we present significant data about the contribution of these genes to PD susceptibility.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Dos Santos AV,Pestana CP,Diniz KR,Campos M,Abdalla-Carvalho CB,de Rosso AL,Pereira JS,Nicaretta DH,de Carvalho WL,Dos Santos JM,Santos-Rebouças CB,Pimentel MMdoi
10.1016/j.neulet.2010.08.083subject
Has Abstractpub_date
2010-11-19 00:00:00pages
121-4issue
2eissn
0304-3940issn
1872-7972pii
S0304-3940(10)01175-4journal_volume
485pub_type
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