Article
Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.
Folia neuropathologica - 1 Jan 2014
Wierzba-Bobrowicz Teresa, Lewandowska Eliza, Zaremba Jacek, Berdyński Mariusz, Żekanowski Cezary, Stępień Tomasz, Felczak Paulina, Tarka Sylwia
Abstract excerpt
Frontotemporal lobar degeneration (FTLD) with mutations in the MAPT (microtubule-associated protein tau) gene (FTLD with MAPT mutation) is a neurodegenerative disease with various clinical phenotypes. We present an Italian- Polish family with a IVS10+3G>A mutation in the MAPT gene, linked with haplotype H1s in a male proband (Fig. 2, II.2, H1s/H1b diplotype) and his sister (Fig. 2, II.1, the H1s/H1j diplotype)....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.