C9orf72-specific phenomena associated with frontotemporal dementia and gastrointestinal symptoms in the absence of TDP-43 aggregation
نویسندگان
چکیده
منابع مشابه
TDP-43 and frontotemporal dementia.
TAR DNA-binding protein of about 43 kDa (TDP-43) is the main ubiquitinated peptide in tau-negative frontotemporal lobar degeneration (FTLD). TDP-43 is typically a nuclear protein, and its aggregation and cytoplasmic translocation are thought to represent major steps in the pathogenesis of FTLD due to TDP-43 proteinopathy (FTLD-TDP). Certain clinical syndromes of frontotemporal dementia are pref...
متن کاملC9orf72-associated Frontotemporal Dementia and psychosis
Frontotemporal dementia (FTD) is a progressive neurodegenerative disease. About 30-40% of the cases have a positive family history, and genetic mutations are identifiable in an increasing proportion of cases. Although psychosis in FTD has been recognized for many years, it has not been taken as a key feature, and has not been included in the clinical diagnostic criteria. This paper assesses the...
متن کاملTDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations.
Frontotemporal dementia with inclusion body myopathy and Paget disease of bone is a rare, autosomal-dominant disorder caused by mutations in the gene valosin-containing protein (VCP). The CNS pathology is characterized by a novel pattern of ubiquitin pathology distinct from sporadic and familial frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) without VCP mutations....
متن کاملHeterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration (FTLD) encompasses certain related neurodegenerative disorders which alter personality and cognition. Heterogeneous ribonuclear proteins (hnRNPs) maintain RNA metabolism and changes in their function may underpin the pathogenesis of FTLD. Immunostaining for hnRNP E2 was performed on sections of frontal and temporal cortex with hippocampus from 80 patients with ...
متن کاملA 43-kDa TDP-43 Species Is Present in Aggregates Associated with Frontotemporal Lobar Degeneration
The transactive response DNA-binding protein (TDP-43) is a major component of the abnormal intracellular inclusions that occur in two common neurodegenerative diseases of humans: (1) a subtype of frontotemporal lobar degeneration and (2) amyotrophic lateral sclerosis. Genetics, experiments in cultured cells and animals, and analogy with other neurodegenerative diseases indicate that the process...
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ژورنال
عنوان ژورنال: Acta Neuropathologica
سال: 2019
ISSN: 0001-6322,1432-0533
DOI: 10.1007/s00401-019-02084-y