Article
Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.
Alzheimer disease and associated disorders - 1 Jan 2000
Moreno Fermín, Alzualde Ainhoa, Camblor Pablo Martínez, Barandiaran Myriam, Van Deerlin Vivianna M, Gabilondo Alazne, Martí Massó José F, López de Munain Adolfo, Indakoetxea Begoña
Abstract excerpt
Frontotemporal lobar degeneration because of mutations in the progranulin (PGRN) gene presents a high variability both in the clinical phenotype and age of onset of disease. Factors that influence this variability remain largely unknown. The aim of our study was to determine whether selected genetic variables modify age at onset of disease in our series of 21 patients with a single splicing mutation (c.709-1G>A)...
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