Article
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
Neurology - 10 May 2005
Zarranz J J, Ferrer I, Lezcano E, Forcadas M I, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban J C, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O, Rodríguez-Martínez A B, de Pancorbo M Martínez, Pastor P, Pérez-Tur J
Abstract excerpt
BACKGROUND: Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene. In some families the genetic basis is still unknown. The authors report two pedigrees with FTDP-17 harboring a novel mutation (K317M) in exon 11 in the MAPT gene. METHODS: The authors identified two apparently unrelated pedigrees with an autosomal dominant neurodegenerative...
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