The Need for Appropriate Genotyping Strategies for Glucocerebrosidase Mutations in Cohorts With Parkinson Disease

Gutti, Usha

doi:10.1001/archneur.65.6.850

Cited by 9 publications

(5 citation statements)

References 6 publications

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“…The association between parkinsonism and the S271G mutation in GBA has also been reported in both Greek and a Chinese cohort 11,12. In addition, the R359X mutation in GBA found in this study was identified by Beutler and Gelbart in non-Jewish patients with GD type 2,13 and its prevalence is reported very low in among Spanish patients with GD 14.…”

Section: Discussionsupporting

confidence: 79%

Parkinsonism Associated with Glucocerebrosidase Mutation

et al. 2011

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BackgroundGaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD). We report herein a family of Koreans exhibiting parkinsonism-associated GBA mutations.Case ReportA 44-year-old woman suffering from slowness and paresthesia of the left arm for the previous 1.5years, visited our hospital to manage known invasive ductal carcinoma. During a preoperative evaluation, she was diagnosed with Gaucher's disease and double mutations of S271G and R359X in GBA. Parkinsonian features including low amplitude postural tremors, rigidity, bradykinesia and shuffling gait were observed. Genetic analysis also revealed that her older sister, who had also been diagnosed with PD and had been taking dopaminergic drugs for 8-years, also possessed a heterozygote R359X mutation in GBA. 18F-fluoropropylcarbomethoxyiodophenylnortropane positron-emission tomography in these patients revealed decreased uptake of dopamine transporter in the posterior portion of the bilateral putamen.ConclusionsThis case study demonstrates Korean familial cases of PD with heterozygote mutation of GBA, further supporting the association between PD and GBA mutation.

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Section: Discussionsupporting

confidence: 79%

Parkinsonism Associated with Glucocerebrosidase Mutation

et al. 2011

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“…Therefore, we may have underestimated the proportion of mutation carriers in the genes we studied, particularly GBA in non-Jews. 34 We did not examine the ATP13A2 (PARK9); however it is rarely associated with EOPD. 35 …”

Section: Methodsmentioning

confidence: 99%

Frequency of Known Mutations in Early-Onset Parkinson Disease

Alcalay¹,

Caccappolo²,

Mejia‐Santana³

et al. 2010

Arch Neurol

134

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“…The percentage of GBA mutation carriers has been slightly lower in other AJ PD cohorts, but the association between GBA and IPD in Ashkenazim remains robust 10, 22 . While it was initially unclear whether GBA mutations conferred an epidemiologically significant risk for IPD in other ethnic populations, the association between GBA mutations and IPD has been confirmed worldwide 23, 24 , although the predominant mutations and the magnitude of epidemiological risk varies from population to population 5-7, 25-39 .…”

Section: The Evidence Linking Gba and Parkinsonismmentioning

confidence: 99%

The Association Between ß-Glucocerebrosidase Mutations and Parkinsonism

Swan

Saunders‐Pullman

2013

Curr Neurol Neurosci Rep

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Mutations in the ß-glucocerebrosidase gene (GBA), which encodes the lysosomal enzyme ß-glucocerebrosidase, have traditionally been implicated in Gaucher disease, an autosomal-recessive lyososomal storage disorder. Yet the past two decades have yielded an explosion of epidemiological and basic-science evidence linking mutations in GBA with the development of Parkinson disease as well. Although the specific contribution of mutant GBA to the pathogenesis of parkinsonism remains unknown, evidence suggests both loss of function and toxic gain-of-function by abnormal ß-glucocerebrosidase may be important, and a close relationship between ß-glucocerebrosidase and α-synuclein. Furthermore, multiple lines of evidence suggest that while GBA-associated PD closely mimics idiopathic PD (IPD), it may present at a younger age, and is more frequently complicated by cognitive dysfunction. Understanding the clinical association between GBA and PD, and the relationship between ß-glucocerebrosidase and α-synuclein, may enhance understanding of the pathogenesis of IPD, improve prognostication and treatment of GBA carriers with parkinsonism, and may furthermore inform therapies for IPD not due to GBA mutations.

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The Need for Appropriate Genotyping Strategies for Glucocerebrosidase Mutations in Cohorts With Parkinson Disease

Cited by 9 publications

References 6 publications

Parkinsonism Associated with Glucocerebrosidase Mutation

Parkinsonism Associated with Glucocerebrosidase Mutation

Frequency of Known Mutations in Early-Onset Parkinson Disease

The Association Between ß-Glucocerebrosidase Mutations and Parkinsonism

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