Evidence map›Paper›PMID 39954136›Full record

ArticleNeurogenetics2025

Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.

Juliana Cordovil Cotrin, Rafael Mina Piergiorge, Andressa Pereira Gonçalves, Mariana Spitz, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Ana Tereza Ribeiro Vasconcelos, Cíntia Barros Santos-Rebouças

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Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Juliana Cordovil CotrinDepartment of Genetics, Institute of Biology Roberto Alcantara Gomes, Rio de Janeiro State University, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, 20550-013, RJ, Brazil.
Rafael Mina PiergiorgeDepartment of Genetics, Institute of Biology Roberto Alcantara Gomes, Rio de Janeiro State University, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, 20550-013, RJ, Brazil.
Andressa Pereira GonçalvesDepartment of Genetics, Institute of Biology Roberto Alcantara Gomes, Rio de Janeiro State University, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, 20550-013, RJ, Brazil.
Mariana SpitzMovement Disorders Clinic, Neurology Service, Pedro Ernesto University Hospital, Rio de Janeiro State University, Rio de Janeiro, Brazil.
Alexandra Lehmkuhl GerberBioinformatics Laboratory (LABINFO), National Laboratory for Scientific Computing (LNCC), Petrópolis, Brazil.
Ana Paula de Campos GuimarãesBioinformatics Laboratory (LABINFO), National Laboratory for Scientific Computing (LNCC), Petrópolis, Brazil.
Ana Tereza Ribeiro VasconcelosBioinformatics Laboratory (LABINFO), National Laboratory for Scientific Computing (LNCC), Petrópolis, Brazil.
Cíntia Barros Santos-RebouçasDepartment of Genetics, Institute of Biology Roberto Alcantara Gomes, Rio de Janeiro State University, Rua São Francisco Xavier, 524, PHLC - sala 501F, Maracanã, Rio de Janeiro, 20550-013, RJ, Brazil. cbs@uerj.br.

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico 302342/2022-2; 307145/2021-2Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro FAPERJ, E- 26/204.043/2024; E-26/201.046/2022; E-26/200.883/2021, E-26/210.012/2020
6 · The paper itself

Abstract

Parkinson's disease (PD) is a multifaceted neurodegenerative disorder with both non-motor and motor symptoms. Variants in the glucosylceramidase beta 1 (GBA1) gene are the strongest genetic risk factor for PD, while homozygous or compound heterozygous variants in this gene classically cause Gaucher disease (GD). This study presents an early-onset PD patient with a homozygous GBA1 deletion. Whole-exome sequencing (WES) was performed, and the identified variant was validated via Sanger sequencing. The variant was classified according to ACMG guidelines and ClinGen updates. The patient, a Brazilian female of mixed ethnicity, exhibited the full spectrum of classical motor and non-motor PD symptoms without evident hallmarks of GD. The identified homozygous GBA1 variant (NM_000157.4:c.222_224del; p.T75del; rs761621516) has a very low global allele frequency (0.00003284) and is associated with reduced enzymatic activity. This variant exhibits a founder effect among individuals of African descent. This case highlights an intricate genotype-phenotype landscape for GBA1 variants, underscoring the role of homozygous GBA1 variants in PD pathogenesis.

Indexed as

Gaucher DiseaseGlucosylceramidaseParkinson DiseaseAge of OnsetBrazilExome SequencingFemaleGenetic Predisposition to DiseaseHomozygoteHumansGBA protein, humanGlucosylceramidaseEarly-onset Parkinson’s diseaseGaucher diseaseGBA1Parkinson’s diseaseWhole exome sequencing

Identifiers

PMID39954136

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.