Work

A novel α-synuclein missense mutation in Parkinson disease

Year: 2013

Type: article

Study design: Case Report

Abstract: a-Synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date.We report a novel mutation (p.H50Q) in a pathologically proven case.Methods and results.Standard protocol approvals, registrations, and patient consents.Patients had given written informed consent for use of their brains in research.The study was approved by the local ethics committee.

Source: Neurology

DOI: 10.1212/wnl.0b013e31828727ba

Authors: Christos Proukakis, Christopher G. Dudzik, Timothy Brier, Donna S. MacKay, J. Mark Cooper, Glenn L. Millhauser, Henry Houlden, Anthony H. Schapira

Institutions: University of California, Santa Cruz, UCL Queen Square Institute of Neurology, University College London

Language: English

Topic: Parkinson's Disease Mechanisms and Treatments

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Wellcome Trust, Parkinson's UK, National Institutes of Health, Medical Research Council, National Institute of General Medical Sciences

Awards: G1137313802, Molecular aspects of copper and zinc binding to the prion protein, G2845388095, A systematic investigation into the pathogenesis and course of Parkinson's syndrome, G405652376, G5568298347, Using Next Generation Sequencing to Unravel the Pathogenesis of Sporadic Inclusion Body Myositis - The International IBM Consortium Genetic Study, G8273763939, A systematic investigation into the pathogenesis and course of Parkinson's syndrome.

OpenAlex ID: W2072509284

FWCI: 29.07

Cites: 7

Cited by: 484

Related to: 10