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.
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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-pp.ucl.ac.uk/id/eprint/1443056 |
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