A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction

A de novo α-synuclein A53T (p.Ala53Thr; c.209G>A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria, and cogn...

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Autors principals: Puschmann, Andreas, Ross, Owen A., Vilariño-Güell, Carles, Lincoln, Sarah J., Kachergus, Jennifer M., Cobb, Stephanie A., Lindquist, Suzanne G., Nielsen, Jørgen E., Wszolek, Zbigniew K., Farrer, Matthew, Widner, Håkan, van Westen, Danielle, Hägerström, Douglas, Markopoulou, Katerina, Chase, Bruce A., Nilsson, Karin, Reimer, Jan, Nilsson, Christer
Format: Artigo
Idioma:Inglês
Publicat: 2009
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2783246/
https://ncbi.nlm.nih.gov/pubmed/19632874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2009.06.007
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