Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

Spitz, Mariana; Rozenberg, Roberto; Pereira, Lygia da Veiga; Barbosa, Egberto Reis

doi:10.1016/j.parkreldis.2007.06.010

Cited by 57 publications

(49 citation statements)

References 31 publications

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“…Carriers of one mutated allele of GBA have a 5-fold increase risk to develop PD, compared with non-carriers. A previous study has shown a frequency of about 3% of GBA mutations among PD Brazilian patients [3].…”

mentioning

confidence: 91%

Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease

Spitz

Pereira

Nicareta

et al. 2015

Parkinsonism & Related Disorders

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mentioning

confidence: 91%

Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease

Spitz

Pereira

Nicareta

et al. 2015

Parkinsonism & Related Disorders

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“…Founder mutations in GBA can be detected in 1 out of 16 Ashkenazi Jews, and were shown to be important risk factors for Parkinson disease (PD) in this population 2,3 and in many other populations worldwide. [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18] Three other lysosomal storage diseases that are caused by founder mutations can be found in the AJ population: Tay-Sachs disease 19 (carrier frequency of 1:27 20 ), Niemann-Pick disease type A 21 (1:115 20 ), and mucolipidosis type IV 22 (1:89 20 ). These 3 autosomal recessive diseases are caused by mutations in genes encoding lysosomal enzymes, 23 and their deficiency results in cellular accumulation of the enzymes' substrates.…”

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confidence: 99%

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

et al. 2013

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Objective: To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs, Niemann-Pick A, and mucolipidosis type IV diseases, respectively) with Parkinson disease (PD).Methods: Two PD patient cohorts of Ashkenazi Jewish (AJ) ancestry, that included a total of 938 patients, were studied: a cohort of 654 patients from Tel Aviv, and a replication cohort of 284 patients from New York. Eight AJ founder mutations in the HEXA, SMPD1, and MCOLN1 genes were analyzed. The frequencies of these mutations were compared to AJ control groups that included large published groups undergoing prenatal screening and 282 individuals matched for age and sex.Results: Mutation frequencies were similar in the 2 groups of patients with PD. The SMPD1 p.L302P was strongly associated with a highly increased risk for PD (odds ratio 9.4, 95% confidence interval 3.9-22.8, p , 0.0001), as 9/938 patients with PD were carriers of this mutation compared to only 11/10,709 controls. Conclusions:The SMPD1 p.L302P mutation is a novel risk factor for PD. Although it is rare on a population level, the identification of this mutation as a strong risk factor for PD may further elucidate PD pathogenesis and the role of lysosomal pathways in disease development.

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“…From the screening of 99 patients and 1,543 healty people they identified these mutations in 31.3% of patients with PD versus 6.2% of healty controls. Many studies have been conducted in the years, some of these have been screened PD patients for common GBA mutations (Clarck et al, 2005;Sato et al, 2005;Tan et al, 2007;Wu et al, 2007;De Marco et al, 2008;Spitz et al, 2008;Mata et al, 2008;Gan-Or et al, 2008), others have been sequenced the entire GBA gene Ziegler et al, 2007;Clark et al, 2007;Kalinderi et al, 2009;Neumann et al, 2009). All of these studies evidenced a higher frequency of GBA mutations among PD patients than in matched controls, but the frequency of GBA mutations varies in relation with the study's design (popolation, number and type of mutations screened or whole GBA scanning).…”

Section: Genetic Studies and Neuropathological Datamentioning

confidence: 99%

Role of Lysosomal Enzymes in Parkinson’s Disease: Lesson from Gaucher’s Disease

Beccari¹,

Balducci²,

Paciotti³

et al. 2011

Etiology and Pathophysiology of Parkinson's Disease

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Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

Cited by 57 publications

References 31 publications

Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease

Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

Role of Lysosomal Enzymes in Parkinson’s Disease: Lesson from Gaucher’s Disease

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