SCIENTIFIC LITERATURE · MED

Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials.

Menozzi E, Del Pozo SL, Macnaughtan J, Mezabrovschi R, Koletsi S, Mitrotti P, Gallo L, Calabrese R, Toffoli M, Loefflad N, Valzania F, Cavallieri F, Fioravanti V, Yalkic S, Limbachiya N, Blandini F, Avenali M, Schapira AH.

NPJ Parkinsons Dis · 2025-10-01

DOI: 10.1038/s41531-025-01063-3PMID: 41034226

Open accessresearch-article; Journal ArticleOriginal source ↗

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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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