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We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an(More)
OBJECTIVE To evaluate a cognitive test, the TYM ("test your memory"), in the detection of Alzheimer's disease. DESIGN Cross sectional study. SETTING Outpatient departments in three hospitals, including a memory clinic. PARTICIPANTS 540 control participants aged 18-95 and 139 patients attending a memory clinic with dementia/amnestic mild cognitive(More)
Mutations in CHMP2B cause frontotemporal dementia (FTD) in a large Danish pedigree, which is termed FTD linked to chromosome 3 (FTD-3), and also in an unrelated familial FTD patient. CHMP2B is a component of the ESCRT-III complex, which is required for function of the multivesicular body (MVB), an endosomal structure that fuses with the lysosome to degrade(More)
Through an international consortium, we have collected 37 tau- and TAR DNA-binding protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, and present here the first comprehensive analysis of these cases in terms of neuropathology, genetics, demographics and clinical data. 92% (34/37) had fused in sarcoma (FUS) protein pathology,(More)
The Test Your Memory (TYM) test has been proposed for screening dementia. We present a French version and its validation in memory clinics. F-TYM was administered to 201 patients with memory complaints visiting five secondary referral hospital centers. Final diagnosis was dementia in 34%, amnestic mild cognitive impairment (MCI) in 32%, non-amnestic MCI in(More)
Recent work on frontotemporal dementia (FTD) has revealed the existence of at least 3 genetically distinct groups of inherited FTD: FTDP-17, FTD and motor neuron disease linked to chromosome 9, and FTD linked to chromosome 3 (FTD-3). Tau, on chromosome 17, is the only gene where mutations have been identified and its involvement in FTD has been firmly(More)
OBJECTIVE The aim of this study is the evaluation of a novel cognitive test, the hard Test Your Memory (H-TYM), in the detection of mild Alzheimer's disease (AD) and amnestic mild cognitive impairment (aMCI). METHODS This paper uses a prospective study in an outpatient memory clinic. We recruited 97 patients with a diagnosis of mild AD or aMCI aged(More)
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