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Gaucher disease-causing variants in the glucocerebrosidase gene (GBA) are linked to multiple system atrophy (MSA). This genetic association was observed across diverse populations, suggesting a shared pathway with Parkinson disease.

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Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Glucocerebrosidase gene (GBA) variants are established risk factors for Parkinson disease (PD) and dementia with Lewy bodies (DLB).
  • The genetic overlap between GBA variants and neurodegenerative disorders necessitates investigation into other related conditions.

Purpose of the Study:

  • To determine if GBA variants associated with Gaucher disease play a role in the etiology of multiple system atrophy (MSA).
  • To analyze the frequency of Gaucher-disease-causing GBA variants in a large cohort of MSA patients and control subjects across different ethnicities.

Main Methods:

  • GBA gene sequencing was performed on 969 MSA patients and 1509 control subjects from Japanese, European, and North American populations.
  • Analysis focused specifically on Gaucher-disease-causing GBA variants using Mantel-Haenszel and logistic regression analyses.

Main Results:

  • Gaucher-disease-causing GBA variants were found more frequently in MSA patients (1.65% Japanese, 1.35% European, 2.91% North American) compared to controls (0.89% Japanese, 0.63% European, 0.34% North American).
  • A pooled odds ratio of 2.44 (P=0.029) indicated a significant association between these GBA variants and MSA.
  • The association was particularly strong in the MSA cerebellar subtype (MSA-C) (P=7.3 × 10⁻³).

Conclusions:

  • Gaucher-disease-causing GBA variants are significantly associated with an increased risk of developing multiple system atrophy (MSA).
  • These findings suggest a common genetic and potentially pathophysiological link between GBA-related disorders and MSA, similar to that observed in PD and DLB.