Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation-Reference-Cited by-同舟云学术

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Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Published:2015-08-27 Issue:1 Volume:10 Page:
ISSN:1750-1326
Container-title:Molecular Neurodegeneration
language:en
Short-container-title:Mol Neurodegeneration

Author:

Kiely Aoife P.^ORCID,Ling Helen,Asi Yasmine T.,Kara Eleanna,Proukakis Christos,Schapira Anthony H.,Morris Huw R.,Roberts Helen C.,Lubbe Steven,Limousin Patricia,Lewis Patrick A.,Lees Andrew J.,Quinn Niall,Hardy John,Love Seth,Revesz Tamas,Houlden Henry,Holton Janice L.

Funder

Multiple system atrophy trust UK

Cortico Basal Degeneration (CBD) Solutions, Reta Lila Weston Institute of Neurological Studies

Government of Kuwait

Parkinson's UK (GB), National Institute of Health Research

Parkinson's UK

Medical Research Council

Parkinson's UK (GB), Multiple system atrophy trust UK (GB) and Progressive Supranuclear Palsy (Europe) association

Wellcome trust/MRC

Cortico Basal Degeneration Solutions

Medical Research Council (GB), Dystonia Medical research foundation, Parkinson's Disease Foundation

Parkinson's UK (GB), Cortico Basal Degeneration Solutions, Reta Lila Weston Institute for Neurological Studies

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Molecular Biology

Link

http://link.springer.com/content/pdf/10.1186/s13024-015-0038-3.pdf

Reference70 articles.

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2. Polymeropoulos M, Lavedan C, Leroy E, Ide S, Dehejia A, Dutra A, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson’s disease. Science. 1997;276:2045–7.

3. Zarranz JJ, Alegre J, Gómez-Esteban JC, Lezcano E, Ros R, Ampuero I, et al. The new mutation, E46K, of α-synuclein causes parkinson and Lewy body dementia. Ann Neurol. 2004;55(2):164–73.

4. Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S, et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson’s disease. Nat Genet. 1998;18:106–8.

5. Proukakis C, Dudzik CG, Breier T, MacKay DS, Cooper JM, Millhauser GL, et al. A novel alpha-synuclein missense mutation in Parkinson’s disease. Neurology. 2012;80(11):1062–4.

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