Sex Distribution of <scp>GBA1</scp> Variants Carriers with Dementia with Lewy Bodies and Parkinson's Disease

Toffoli, Marco; Schapira, Anthony H.V.; Proukakis, Christos

doi:10.1002/mds.29609

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…A comprehensive meta-analysis of several diverse cohorts also did not offer any leads on gender differences [ 91 ]. Similar findings were observed in a recent study, where gender differences in GBA1 variants could not explain PD risk but predicted a stronger association of males with DLB [ 92 ]. In summary, there are several challenges associated with the molecular dissection of Parkinson's disease GWAS, which can only be resolved by larger and inclusive studies, with refined analyses.…”

Section: Challenges Of Understanding Genome-wide Association At a Mol...supporting

confidence: 90%

Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system

Bhore,

Bogacki,

O'Callaghan

et al. 2024

Phil. Trans. R. Soc. B

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Parkinson's disease is a progressive neurological disorder, characterized by prominent movement dysfunction. The past two decades have seen a rapid expansion of our understanding of the genetic basis of Parkinson's, initially through the identification of monogenic forms and, more recently, through genome-wide association studies identifying common risk variants. Intriguingly, a number of cellular pathways have emerged from these analysis as playing central roles in the aetiopathogenesis of Parkinson's. In this review, the impact of data deriving from genome-wide analyses for Parkinson's upon our functional understanding of the disease will be examined, with a particular focus on examples of endo-lysosomal and mitochondrial dysfunction. The challenges of moving from a genetic to a functional understanding of common risk variants for Parkinson's will be discussed, with a final consideration of the current state of the genetic architecture of the disorder. This article is part of a discussion meeting issue ‘Understanding the endo-lysosomal network in neurodegeneration’.

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Section: Challenges Of Understanding Genome-wide Association At a Mol...supporting

confidence: 90%

Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system

Bhore,

Bogacki,

O'Callaghan

et al. 2024

Phil. Trans. R. Soc. B

View full text Add to dashboard Cite

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Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease

Vieira,

Mezabrovschi,

Toffoli

et al. 2024

Movement Disorders

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Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even regionally within countries. Guidelines for GBA1 variant counseling are evolving. We review the current knowledge of the link between GBA1 and PD, and discuss the practicalities of GBA1 testing. Lastly, we provide a consensus for an approach to counseling people with GBA1 variants, notably the communication of PD risk. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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Sex Distribution of GBA1 Variants Carriers with Dementia with Lewy Bodies and Parkinson's Disease

Cited by 2 publications

References 5 publications

Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system

Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system

Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease

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