Journal article
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Abstract
BACKGROUND: The progranulin gene (GRN) is mutated in 5-10% of patients with frontotemporal lobar degeneration (FTLD) and in about 20% of patients with familial FTLD. The most common mutation in GRN is Arg493X. We aimed to establish the contribution of this mutation to FTLD and related disorders. METHODS: We measured the frequency of Arg493X in 3405 unrelated patients with various neurodegenerative diseases using Taqman single-nucleotide …
Authors
Rademakers R; Baker M; Gass J; Adamson J; Huey ED; Momeni P; Spina S; Coppola G; Karydas AM; Stewart H
Journal
Lancet Neurol, Vol. 6, No. 10, pp. 857–868
Publication Date
10 2007
DOI
10.1016/S1474-4422(07)70221-1
ISSN
1474-4422
Medical Subject Headings (MeSH)
Age of OnsetAgedAllelesAlzheimer DiseaseAphasia, Primary ProgressiveApolipoproteins ECohort StudiesDNA-Binding ProteinsDementiaFemaleFounder EffectGenotypeHaplotypesHeterozygoteHumansInclusion BodiesIntercellular Signaling Peptides and ProteinsMaleMemory DisordersMiddle AgedMutationNeurodegenerative DiseasesNeurofibrillary TanglesNeuronsPhenotypePolymorphism, Single NucleotideProgranulinsRetrospective StudiesUbiquitintau Proteins