Autosomal Dominant Parkinson's Disease Caused by SNCA p.E46K Mutation in a Family with Russian Ancestry

Mov Disord. 2024 Apr 25. doi: 10.1002/mds.29821. Online ahead of print.

Konstantin Senkevich^{1

2}, Irina Miliukhina^{3

4}, Alexandr Zhuravlev⁴, Maria Shumilova⁵, Mariia Beletskaia⁴, Tatiana Skvortsova³, Eric Yu^{1

6}, Jamil Ahmad^{1

2}, Farnaz Asayesh^{1

2}, Ziv Gan-Or^{1

2

6}, Anton Emelyanov^{4

7}, Sofya Pchelina^{4

7}

¹ The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
² Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
³ Institute of the Human Brain of RAS, St. Petersburg, Russia.
⁴ First Pavlov State Medical University of St. Petersburg, Saint-Petersburg, Russia.
⁵ ITMO University, Saint-Petersburg, Russia.
⁶ Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
⁷ Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre "Kurchatov Institute", Gatchina, Russia.

No abstract available

Keywords: SNCA; early‐onset Parkinson's disease; targeted sequencing; α‐synuclein.

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