Comparative analysis reveals severe gba1 variants significantly affect clinical phenotype in Parkinson disease, indicating important counselling implications.
Variants in the GBA1 gene are the commonest genetic risk factor for Parkinson disease (PD). Genotype-phenotype correlations exist but with conflicting data. Here, we compared the clinical phenotype of 183 idiopathic PD (iPD) patients, 39 severe GBA1 -PD, 24 mild GBA1 -PD, and 55 risk GBA1 -PD. Compared to iPD, we observed that only severe GBA1 -PD patients had a distinctive, more several clinical profile, characterised by worse depression, hyposmia, cognitive dysfunction, and possibly constipation.
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Menozzi et al. (2025) studied this question.
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