Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

Ziegler, Shira G.; Eblan, Michael J.; Gutti, Usha; Hruska, Kathleen S.; Stubblefield, Barbara; Göker-Alpan, Özlem; LaMarca, Mary E.; Sidransky, Ellen

doi:10.1016/j.ymgme.2007.03.004

Cited by 103 publications

(86 citation statements)

References 33 publications

(43 reference statements)

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“…The response to dopaminergic therapy in patients with PD with or without mutations in GBA appears to be the same, including the development of motor complications (Ziegler et al, 2007). Most studies report a good or excellent response to L-dopa treatment in heterozygote GBA mutation carriers (Ziegler et al, 2007;, but some report a less favourable response (Tayebi et al, 2003).…”

Section: Gba Mutation Escalates the Onset Of Parkinson's Diseasementioning

confidence: 99%

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Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

Beavan

Schapira

2013

Annals of Medicine

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Section: Gba Mutation Escalates the Onset Of Parkinson's Diseasementioning

confidence: 99%

“…Most studies report a good or excellent response to L-dopa treatment in heterozygote GBA mutation carriers (Ziegler et al, 2007;, but some report a less favourable response (Tayebi et al, 2003).…”

Section: Gba Mutation Escalates the Onset Of Parkinson's Diseasementioning

confidence: 99%

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

Beavan

Schapira

2013

Annals of Medicine

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“…15 Chinese patients with PD from Singapore demonstrated a significant association with GBA, 21 whereas a similar study of Chinese patients from Taiwan did not. 20 A survey of Italian patients with PD for the N370S and L444P mutations found a significant association of these variants with PD, 22 while a Norwegian sample showed comparable frequencies of these two mutations in patients with PD and controls. 17 Most recently, a study of Portuguese patients with PD detected a significant increase in GBA variants in patients as compared to controls.…”

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confidence: 99%

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

Nichols¹,

Pankratz²,

Marek³

et al. 2009

Neurology

201

152

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Objective: To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our full sample whether these sequence variants increased the risk for PD and were associated with an earlier onset of disease. Methods:We performed a comprehensive study of all GBA exons in one patient with PD from each of 96 PD families, selected based on the family-specific lod scores at the GBA locus. Identified GBA variants were subsequently screened in all 1325 PD cases from 566 multiplex PD families and in 359 controls.Results: Nine different GBA variants, five previously reported, were identified in 21 of the 96 PD cases sequenced. Screening for these variants in the full sample identified 161 variant carriers (12.2%) in 99 different PD families. An unbiased estimate of the frequency of the five previously reported GBA variants in the familial PD sample was 12.6% and in the control sample was 5.3% (odds ratio 2.6; 95% confidence interval 1.5-4.4). Presence of a GBA variant was associated with an earlier age at onset (p ϭ 0.0001). On average, those patients carrying a GBA variant had onset with PD 6.04 years earlier than those without a GBA variant. Conclusions:This study suggests that GBA is a susceptibility gene for familial Parkinson disease (PD) and patients with GBA variants have an earlier age at onset than patients with PD without GBA variants. Neurology

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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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Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

Cited by 103 publications

References 33 publications

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

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

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