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Article

Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

29 Mar 2024

Abstract excerpt

Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype. Clinical features and progression of PRKN-PD was also assessed. Among 133 variants in index cases (n = 582), there were 58 (43.6%)...

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PMID: 38553467
DOI: 10.1038/s41531-024-00677-3

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