The Human Frontal Lobes, Third Edition: Functions and Disorders (Science and Practice of Neuropsychology) by Bruce L. Miller & Jeffrey L. Cummings

Author:Bruce L. Miller & Jeffrey L. Cummings [Miller, Bruce L. & Cummings, Jeffrey L.]
Language: eng
Format: epub
ISBN: 9781462531837
Amazon: 1462531830
Publisher: The Guilford Press
Published: 2017-12-12T00:00:00+00:00

Clinical Features

TARDBP mutations are causative of about 3% of familial and 1.5% of sporadic ALS cases, but are infrequent in FTD (with or without MND) (Caroppo et al., 2016; Lattante et al., 2013c). Within the FTDL spectrum, bvFTD-MND (p.112H, p.G295S, p.A361T, and p.I383V), and svPPA-MND (p.G295S and p.A382P), as well as “pure” (i.e., with no signs of MND), bvFTD (p.N267S and p.A382T), svPPA (p.A382T and p.I383V), CBS (p.N267S), and nfvPPA (p.G295S) have been reported (Benajiba et al., 2009; Borroni et al., 2009; Borroni et al., 2010b; Borghero et al., 2011; Caroppo et al., 2016; Floris et al., 2015; Gelpi, van der Zee, Estrada, van Broeckhoven, & Sanchez-Valle, 2013; Huey et al., 2012; Synofzik et al., 2014). Mutations were also reported in patients diagnosed clinically with PD (p.N267S and p.A382T), ALS with parkinsonism (p.A315E), and ALS with AD-type dementia (p.G294V) (Cannas et al., 2013; Caroppo et al., 2016; Corrado et al., 2009; Fujita, Ikeda, Yanagisawa, Senoo, & Okamoto, 2011; Rayaprolu et al., 2013a). Atypical presentations have also been reported: Kovacs et al. described a patient carrying a p.K263E mutation who was diagnosed with bvFTD, and had chorea and supranuclear gaze palsy, but no signs of MND, and Praline et al. reported a patient with progressive anarthria (p.S393L) (Kovacs et al., 2009; Praline, Vourc’h, Guennoc, Veyrat-Durebex, & Corcia, 2012).

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