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Severe GBA1 variants drive the GBA-PD clinical phenotype: implications for counselling and clinical trials
2024-12-11
neurology
Title + abstract only
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BackgroundVariants in the GBA1 gene are the commonest genetic risk factor for Parkinson disease (PD). Genotype- phenotype correlations exist but with conflicting data, particularly in the cognitive domain. ObjectivesComparing clinical phenotypes in a multicentre, international cohort incorporating GBA-PD and idiopathic PD (iPD) patients. MethodsPatients underwent a comprehensive assessment of motor and non-motor functions. Two-group (GBA- PD vs iPD) and multiple-group comparisons (iPD, risk, m...
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