α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?

We report a British family with young-onset Parkinson’s disease (PD) and a G51D SNCA mutation that segregates with the disease. Family history was consistent with autosomal dominant inheritance as both the father and sister of the proband developed levodopa-responsive parkinsonism with onset in thei...

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Autores principales: Kiely, Aoife P., Asi, Yasmine T., Kara, Eleanna, Limousin, Patricia, Ling, Helen, Lewis, Patrick, Proukakis, Christos, Quinn, Niall, Lees, Andrew J., Hardy, John, Revesz, Tamas, Houlden, Henry, Holton, Janice L.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer-Verlag 2013
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3681325/
https://ncbi.nlm.nih.gov/pubmed/23404372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-013-1096-7
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