TAU Mutations are not a Predominant Cause of Frontotemporal Dementia in Canadian Patients
نویسندگان
چکیده
منابع مشابه
Tau Mutations Cause Frontotemporal Dementias
have recently been identified in over a dozen families Arnold Pick provided the first clinical description of fronwith FTDP-17 (Figure 1). The known exonic mutations totemporal dementia in 1892, and since then this class are missense mutations located in the microtubuleof disease has been shown to account for a significant binding repeat region or close to it (Figure 1a), whereas proportion of ...
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The discovery of close to 20 different mutations in the gene encoding the microtubule-associated protein tau in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) has shown that dysfunction of tau protein causes neurodegeneration and dementia (Hutton et al., 1998; Poorkaj et al., 1998; Spillantini et al., 1998; reviewed in Spillantini et al., 2000). It has implications f...
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The majority of cases with frontotemporal dementia (FTD) have no tau deposition in the brain, yet mutations in the tau gene lead to a similar clinical phenotype with insoluble tau depositing in neuropathological lesions. We report two tau gene mutations at positions +19 and +29, in the intronic sequences immediately following the stem loop structure in exon 10, which segregate with FTD. Exon-tr...
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Objective Frontotemporal dementia (FTD) is an uncommon type of dementia. The hallmark feature of FTD is the presentation with aphasia, or behavioral changes which are varies in different subtypes of the disease. We propose a quantitative aphasia test as an additive diagnostic tool for differentiation of FTD subtypes. Method: The study was performed on 20 patients, who were referred to dementia...
متن کاملPlasma tau is increased in frontotemporal dementia.
BACKGROUND Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder presenting clinically with personality change (behavioural variant FTD (bvFTD)) or language deficits (primary progressive aphasia (PPA)). About a third of FTD is familial with mutations in GRN, MAPT and C9orf72 being the major genetic causes. Robust biomarkers of the underlying pathology are still lacking in ...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2004
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100003450