Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015;43(2):625-30.
doi: 10.3233/JAD-141512.

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

Claire Boutoleau-Bretonnière  1 , Agnès Camuzat  2 , Isabelle Le Ber  3 , Kawtar Bouya-Ahmed  2 , Rita Guerreiro  4 , Anne-Laure Deruet  5 , Christelle Evrard  5 , José Bras  4 , Estelle Lamy  5 , Elisabeth Auffray-Calvier  6 , Amandine Pallardy  7 , John Hardy  4 , Alexis Brice  2 , Pascal Derkinderen  8 , Martine Vercelletto  5
Affiliations

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

Claire Boutoleau-Bretonnière et al. J Alzheimers Dis. 2015.

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.

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.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Pedigree. The individuals are represented by diamonds for confidentiality. Black diamonds: FTD; white diamonds: non symptomatic individuals. Individuals 0007, 008, and 009 carried the c.714_716delGAA mutation.
Fig. 2
Fig. 2
Copy of Rey figure of the patients carrying SQSTM1 mutations
Fig. 3
Fig. 3
Brain imaging. ECD-SPECT (top) and brain MRI (coronal and axial sections, bottom) of patients 007, 008, and 009.
See this image and copyright information in PMC

References

    1. Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, van Swieten JC, Seelaar H, Dopper EG, Onyike CU, Hillis AE, Josephs KA, Boeve BF, Kertesz A, Seeley WW, Rankin KP, Johnson JK, Gorno-Tempini ML, Rosen H, Prioleau-Latham CE, Lee A, Kipps CM, Lillo P, Piguet O, Rohrer JD, Rossor MN, Warren JD, Fox NC, Galasko D, Salmon DP, Black SE, Mesulam M, Weintraub S, Dickerson BC, Diehl-Schmid J, Pasquier F, Deramecourt V, Lebert F, Pijnenburg Y, Chow TW, Manes F, Grafman J, Cappa SF, Freedman M, Grossman M, Miller BL. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain. 2011;134:2456–2477. - PMC - PubMed
    1. Gorno-Tempini ML, Hillis AE, Weintraub S, Kertesz A, Mendez M, Cappa SF, Ogar JM, Rohrer JD, Black S, Boeve BF, Manes F, Dronkers NF, Vandenberghe R, Rascovsky K, Patterson K, Miller BL, Knopman DS, Hodges JR, Mesulam MM, Grossman M. Classification of primary progressive aphasia and its variants. Neurology. 2011;76:1006–1014. - PMC - PubMed
    1. Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol. 2010;9:995–1007. - PubMed
    1. Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkervoort S, Ajroud-Driss S, Sufit RL, Heller SL, Deng HX, Siddique T. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol. 2011;68:1440–1446. - PubMed
    1. Rubino E, Rainero I, Chio A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology. 2012;79:1556–1562. - PMC - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources