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A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

Boutoleau-Bretonnière, C; Camuzat, A; Le Ber, I; Bouya-Ahmed, K; Guerreiro, R; Deruet, AL; Evrard, C; ... Vercelletto, M; + view all (2015) A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. J Alzheimers Dis , 43 (2) 625 - 630. 10.3233/JAD-141512. Green open access

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Abstract

SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently, SQSTM1 mutations were identified in few families with frontotemporal dementia. We report a new family carrying SQSTM1 mutation and presenting with a clinical phenotype of speech apraxia or atypical behavioral disorders, associated with early visuo-contructional deficits. This study further supports the implication of SQSTM1 in frontotemporal dementia, and enlarges the phenotypic spectrum associated with SQSTM1 mutations.

Type: Article
Title: A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
Location: Netherlands
Open access status: An open access version is available from UCL Discovery
DOI: 10.3233/JAD-141512
Publisher version: http://dx.doi.org/10.3233/JAD-141512.
Language: English
Additional information: © 2015 – IOS Press and the authors. This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License.
Keywords: Amyotrophic lateral sclerosis, Paget disease of bone, SQSTM1, apraxia of speech, behavioral variant of FTD, frontotemporal lobar degeneration, non fluent variant of primary progressive aphasia, p62, progressive non-fluent aphasia, progressive supranuclear palsy
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1443056
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