期刊
JOURNAL OF ALZHEIMERS DISEASE
卷 43, 期 2, 页码 625-630出版社
IOS PRESS
DOI: 10.3233/JAD-141512
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
资金
- Neuromics FP7 [E12009DD]
- France Alzheimer Association [R12091DD]
- Programme Hospitalier de Recherche Clinique' (PHRC)
- program Investissements d'avenir [ANR-10-IAIHU-06]
- Alzheimer's Research UK
- Wellcome Trust/MRC [WT089698]
- University College London/ Institute of Neurology
- University of Sheffield
- MRC Protein phosphorylation Unit at the University of Dundee, Scotland,
- MRC [G0701075] Funding Source: UKRI
- Alzheimers Research UK [ARUK-PhD2014-16, ARUK-TRFUS2012-3] Funding Source: researchfish
- Medical Research Council [G0701075] Funding Source: researchfish
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.
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