Mutational and clinical spectrums of Parkinson’s disease in the Chinese population

Takeaway

  • Genetic testing may benefit patients with Parkinson’s disease (PD) with age at onset (AAO) <40 years, especially those from families with a recessive inheritance pattern, allowing for early diagnosis and treatment; novel variants in PD-associated genes were identified.

Why this matters ?

  • To date, 23 genes have been reported to be mutated in monogenic PD, showing ethnic and geographical heterogeneities, and association with AAO and familial PD.

  • The comprehensive analysis of the mutational spectrum of these PD-associated genes and their corresponding clinical manifestations could support the development of genetic testing for early diagnosis and intervention in Chinese patients with PD.