Publication
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Blauwendraat Cornelis, Wilke Carlo, Simón-Sánchez Javier, Jansen Iris E, Reifschneider Anika, Capell Anja, Haass Christian, Castillo-Lizardo Melissa, Biskup Saskia, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matthis
Genetics in medicine : official journal of the American College of Medical Genetics2018DOI: 10.1038/gim.2017.102PMID 28749476
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Abstract
PurposeTo define the genetic spectrum and relative gene frequencies underlying clinical frontotemporal dementia (FTD).MethodsWe investigated the frequencies and mutations in neurodegenerative disease genes in 121 consecutive FTD subjects using an unbiased, combined sequencing approach, complemented by cerebrospinal fluid Aβ
MeSH Terms
AllelesBiomarkersC9orf72 ProteinFemaleFrontotemporal DementiaGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenetic TestingGenotypeHumansMagnetic Resonance ImagingMaleMiddle AgedMutationNeurodegenerative DiseasesPedigreePhenotypeSequence Analysis, DNAExome Sequencing