Recurrent Biallelic p.L347P PINK1 Variant in Polynesians with Parkinsonism and Isolated Dopa-Responsive Dystonia

Mov Disord Clin Pract. 2022 Jul 2;9(5):696-697. doi: 10.1002/mdc3.13467. eCollection 2022 Jul.

Hugo Morales-Briceno^{1

2}, Tien Lee Ong¹, Stephen R Duma^{1

2}, Natalia Murray^{1

2}, Elizabeth M Pepper³, Ainhi Ha¹, Michel C Tchan⁴, Victor S C Fung^{1

2}

¹ Movement Disorders Unit, Department of Neurology Westmead Hospital Westmead New South Wales.
² Sydney Medical School The University of Sydney Sydney New South Wales.
³ Department of Neurology John Hunter Hospital New Lambton New South Wales Australia.
⁴ Department of Genetic Medicine Westmead Hospital Westmead New South Wales Australia.

No abstract available

Keywords: PINK1; Pacific Islands; Polynesians; dopa‐responsive dystonia; early‐onset Parkinson's disease.