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Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.

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Summary

Genetic variants in the GBA1 gene are linked to Parkinson's disease (PD) and Gaucher's disease (GD). This review details GBA1 variant impacts on PD, parkinsonism, and GD across diverse populations, enhancing genotype-phenotype understanding.

Keywords:
GBA1Parkinson's diseasegenetic PDgenotype–phenotype correlationparkinsonism

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Area of Science:

  • Genetics and Neurology
  • Movement Disorders
  • Rare Diseases

Background:

  • The GBA1 gene encodes glucocerebrosidase, and its variants are associated with Gaucher's disease (GD) and an increased risk of Parkinson's disease (PD) and parkinsonism.
  • Understanding the genotype-phenotype correlations of GBA1 variants is crucial for diagnosing and managing these conditions, particularly PD.
  • Existing literature lacks a comprehensive, ethnically diverse overview of GBA1 variant impacts across different neurological conditions.

Purpose of the Study:

  • To systematically review and consolidate data on GBA1 variants in patients with Parkinson's disease (PD), parkinsonism, and Gaucher's disease (GD).
  • To provide a comprehensive overview of demographic, clinical, and genetic findings from a large, ethnically diverse patient cohort.
  • To elucidate genotype-phenotype correlations, especially concerning PD, and identify key GBA1 variants and their associated clinical manifestations.

Main Methods:

  • Systematic literature review (MDSGene) of publications reporting on GBA1 variants.
  • Inclusion of data from 27,963 patients carrying GBA1 variants, encompassing 13,342 patients with PD or parkinsonism.
  • Analysis of demographic, clinical (motor and non-motor symptoms, cognitive decline), and genetic data from 1082 publications across five continents.

Main Results:

  • Identified 794 GBA1 variants, with 'N409S' and 'L483P' being the most frequent pathogenic variants, showing ethnic predilections.
  • Common coding risk variants include 'E365K' and 'T408M', prevalent in White populations.
  • Novel findings include a predominance of Asian ethnicity in early-onset PD and White ethnicity in late-onset PD. Motor features were similar across PD and parkinsonism, but PD patients with severe variants had more complications and non-motor symptoms. Cognitive decline post-surgery was common. GD patients with PD often had the 'N409S' variant and responded to levodopa.

Conclusions:

  • This review significantly advances the understanding of genotype-phenotype correlations in GBA1 variant carriers, particularly for Parkinson's disease.
  • Specific GBA1 variants have distinct ethnic distributions and clinical associations with PD, parkinsonism, and GD.
  • The findings highlight the complex interplay between GBA1 genetics, ethnicity, and disease manifestation, paving the way for improved clinical management and research.