A novel mutation (K317M) in the MAPTgene causes FTDP and motor neuron disease

Authors :: 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.
Pancorbo, M Martínez de
Pastor, P
Pérez-Tur, J
Source :: Neurology (Ovid); May 2005, Vol. 64 Issue: 9 p1578-1585, 8p
Publication Year :: 2005
Abstract: Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPTgene. 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 MAPTgene.