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

BACKGROUND: We and others have described the neurodegenerative disorder caused by G51D SNCA mutation which shares characteristics of Parkinson’s disease (PD) and multiple system atrophy (MSA). The objective of this investigation was to extend the description of the clinical and neuropathological hal...

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Detalles Bibliográficos
Autores principales: Kiely, Aoife P., 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549856/
https://www.ncbi.nlm.nih.gov/pubmed/26306801
http://dx.doi.org/10.1186/s13024-015-0038-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549856/
https://www.ncbi.nlm.nih.gov/pubmed/26306801
http://dx.doi.org/10.1186/s13024-015-0038-3

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