Article
A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.
JAMA neurology - 1 Sept 2014
Kara Eleanna, Kiely Aoife P, Proukakis Christos, Giffin Nicola, Love Seth, Hehir Jason, Rantell Khadija, Pandraud Amelie, Hernandez Dena G, Nacheva Elizabeth, Pittman Alan M, Nalls Mike A, Singleton Andrew B, Revesz Tamas, Bhatia Kailash P, Quinn Niall, Hardy John, Holton Janice L, Houlden Henry
Abstract excerpt
IMPORTANCE: α-Synuclein (SNCA) locus duplications are associated with variable clinical features and reduced penetrance but the reasons underlying this variability are unknown. OBJECTIVES: To report a novel family carrying a heterozygous 6.4 Mb duplication of the SNCA locus with an atypical clinical presentation strongly reminiscent of frontotemporal dementia and late-onset pallidopyramidal syndromes and study...
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