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J Alzheimers Dis. 2015;43(2):625-30. doi: 10.3233/JAD-141512.

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

Author information

1
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.
2
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.
3
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.
4
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
5
CHU Nantes, Centre de Mémoire et de Ressource et Recherche (CM2R), Nantes, France Inserm, CIC 04, Nantes, France.
6
Service de Neuroradiologie, CHU de Nantes, Nantes, France.
7
Service de Médecine Nucléaire, CHU de Nantes, Nantes, France.
8
CHU Nantes, Centre de Mémoire et de Ressource et Recherche (CM2R), Nantes, France Inserm, CIC 04, Nantes, France Inserm, UMR 913, Nantes, France.

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

PMID:
25114083
PMCID:
PMC4337967
DOI:
10.3233/JAD-141512
[Indexed for MEDLINE]
Free PMC Article

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