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Article

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.

Parkinsonism & related disorders - 1 Nov 2009

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

Abstract excerpt

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 cog...

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Identifiers

PMID: 19632874
DOI: 10.1016/j.parkreldis.2009.06.007
PMCID: PMC2783246

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PSEN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19632874-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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