title: A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
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.
authors.affiliation: CHU Nantes, Centre de Mémoire et de Ressource et Recherche (CM2R), Nantes, France Inserm, CIC 04, Nantes, France Laboratoire d'études des mécanismes cognitifs, EA 3082, Université Lyon 2, Bron F-69500, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Boutoleau-Bretonnière
authors.affiliation: Inserm, UMR_S1127, CRICM, F-75013, Paris, France UPMC Univ Paris 06, UMR_S975, F-75013, Paris, France CNRS UMR 7225, F-75013, Paris, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Camuzat
authors.affiliation: Inserm, UMR_S1127, CRICM, F-75013, Paris, France UPMC Univ Paris 06, UMR_S975, F-75013, Paris, France CNRS UMR 7225, F-75013, Paris, France AP-HP, Hôpital de la Pitié-Salpêtrière, Centre de Référence des Démences Rares, F-75013, Paris, France AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Neurologie, F-75013, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Le Ber
authors.affiliation: Inserm, UMR_S1127, CRICM, F-75013, Paris, France UPMC Univ Paris 06, UMR_S975, F-75013, Paris, France CNRS UMR 7225, F-75013, Paris, France.
authors.forename: Kawtar
authors.initials: K
authors.lastname: Bouya-Ahmed
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: Rita
authors.initials: R
authors.lastname: Guerreiro
authors.affiliation: CHU Nantes, Centre de Mémoire et de Ressource et Recherche (CM2R), Nantes, France Inserm, CIC 04, Nantes, France.
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Deruet
authors.affiliation: CHU Nantes, Centre de Mémoire et de Ressource et Recherche (CM2R), Nantes, France Inserm, CIC 04, Nantes, France.
authors.forename: Christelle
authors.initials: C
authors.lastname: Evrard
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: José
authors.initials: J
authors.lastname: Bras
authors.affiliation: CHU Nantes, Centre de Mémoire et de Ressource et Recherche (CM2R), Nantes, France Inserm, CIC 04, Nantes, France.
authors.forename: Estelle
authors.initials: E
authors.lastname: Lamy
authors.affiliation: Service de Neuroradiologie, CHU de Nantes, Nantes, France.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Auffray-Calvier
authors.affiliation: Service de Médecine Nucléaire, CHU de Nantes, Nantes, France.
authors.forename: Amandine
authors.initials: A
authors.lastname: Pallardy
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.affiliation: Inserm, UMR_S1127, CRICM, F-75013, Paris, France UPMC Univ Paris 06, UMR_S975, F-75013, Paris, France CNRS UMR 7225, F-75013, Paris, France.
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.affiliation: CHU Nantes, Centre de Mémoire et de Ressource et Recherche (CM2R), Nantes, France Inserm, CIC 04, Nantes, France Inserm, UMR 913, Nantes, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Derkinderen
authors.affiliation: CHU Nantes, Centre de Mémoire et de Ressource et Recherche (CM2R), Nantes, France Inserm, CIC 04, Nantes, France.
authors.forename: Martine
authors.initials: M
authors.lastname: Vercelletto
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D001072:Apraxias / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D010641:Phenotype; D000071456:Sequestosome-1 Protein; D013064:Speech Disorders / Q000209:etiology*; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C099718:SQSTM1 protein, human; D000071456:Sequestosome-1 Protein
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
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