A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation

被引：13

作者：

Boutoleau-Bretonniere, Claire ^{[1
,2
,3
]}

Camuzat, Agnes ^{[4
,5
,6
]}

Le Ber, Isabelle ^{[4
,5
,6
,7
,8
]}

Bouya-Ahmed, Kawtar ^{[4
,5
,6
]}

Guerreiro, Rita ^{[9
]}

Deruet, Anne-Laure ^{[1
,2
]}

Evrard, Christelle ^{[1
,2
]}

Bras, Jose ^{[9
]}

Lamy, Estelle ^{[1
,2
]}

Auffray-Calvier, Elisabeth ^{[10
]}

Pallardy, Amandine ^{[11
]}

Hardy, John ^{[9
]}

Brice, Alexis ^{[4
,5
,6
]}

Derkinderen, Pascal ^{[1
,2
,12
]}

Vercelletto, Martine ^{[1
,2
]}

机构：

[1] CHU Nantes, Ctr Memoire & Ressource & Rech CM2R, F-44035 Nantes 01, France

[2] INSERM, CIC 04, Nantes, France

[3] Univ Lyon 2, EA 3082, Lab Etud Mecanismes Cognitifs, F-69500 Bron, France

[4] INSERM, UMR S1127, CRICM, F-75013 Paris, France

[5] Univ Paris 06, UMR S975, F-75013 Paris, France

[6] CNRS, UMR 7225, F-75013 Paris, France

[7] Hop La Pitie Salpetriere, AP HP, Ctr Reference Demences Rares, F-75013 Paris, France

[8] Hop La Pitie Salpetriere, AP HP, Dept Neurol, F-75013 Paris, France

[9] UCL Inst Neurol, Dept Mol Neurosci, London, England

[10] CHU Nantes, Serv Neuroradiol, F-44035 Nantes 01, France

[11] CHU Nantes, Nucl Med Serv, F-44035 Nantes 01, France

[12] INSERM, UMR 913, Nantes, France

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2015年 / 43卷 / 02期

基金：

英国惠康基金;

关键词：

Amyotrophic lateral sclerosis; apraxia of speech; behavioral variant of FTD; frontotemporal lobar degeneration; non fluent variant of primary progressive aphasia p62; Paget disease of bone; progressive non-fluent aphasia; progressive supranuclear palsy; SQSTM1; AMYOTROPHIC-LATERAL-SCLEROSIS; PRIMARY-PROGRESSIVE-APHASIA; FRONTOTEMPORAL DEMENTIA;

D O I：

10.3233/JAD-141512

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：625 / 630

页数：6

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