Mutations in many different genes are known to cause PD.1,2 These various known genetic causes of PD can cause a variety of different clinico-pathological presentations, ranging from slowly progressing disease to severe phenotypes such as dementia with Lewy bodies.5
References:
1.Jia F, Fellner A, Kumar KR. Monogenic Parkinson’s disease: genotype, phenotype, pathophysiology, and genetic testing. Genes (Basel) 2022; 13 (3): 471.
2.Day JO, Mullin S. The genetics of Parkinson’s disease and implications for clinical practice. Genes (Basel) 2021; 12 (7): 1006.
3.Lim SY, Tan AH, Ahmad-Annuar A, et al. Uncovering the genetic basis of Parkinson’s disease globally: from discoveries to the clinic. Lancet Neurol 2024; 23 (12): 1267–1280.
4.Gan-Or Z. Clinical genetic testing in Parkinson’s disease should become part of routine patient care. Brain 2024; 147 (8): 2595–2597.
5.Lunati A, Lesage S, Brice A. The genetic landscape of Parkinson’s disease. Rev Neurol (Paris) 2018; 174 (9): 628–643.
