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Elsevier, Parkinsonism & Related Disorders, 9(15), p. 627-632, 2009

DOI: 10.1016/j.parkreldis.2009.06.007

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

Journal article published in 2009 by Andreas Puschmann, Owen A. Ross, Carles Vilariño-Güell ORCID, Sarah J. Lincoln, Jennifer M. Kachergus, Stephanie A. Cobb, Suzanne G. Lindquist, Jørgen E. Nielsen, Zbigniew K. Wszolek, Matthew Farrer, Håkan Widner, Danielle van Westen ORCID, Douglas Hägerström, Katerina Markopoulou, Bruce A. Chase and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

A de novo alpha-synuclein A53T (p.Ala53 Th; 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 cognitive decline. Longitudinal clinical follow-up, EEG, SPECT and CSF biomarker examinations suggested an underlying encephalopathy with cortical involvement. The mutated allele (c.209A) was present within a haplotype different from that shared among mutation carriers in the Italian (Contursi) and the Greek-American Family H kindreds. One unaffected family member carried the mutation haplotype without the c.209A mutation, strongly suggesting its de novo occurrence within this family. Furthermore, a novel mutation c.488G > A (p.Arg163His; R163H) in the presenilin-2 (PSEN2) gene was detected, but was not associated with disease state.