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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2009
Pynciau:
Article
Mynediad Ar-lein: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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