%0 Journal Article
%T Frontotemporal Dementias: Update on Recent Developments in Molecular Genetics and Neuropathology
%A Li£¿£¿i£¿
%A Rajka M.
%J -
%D 2009
%R 10.2478/10004-1254-60-2009-1921
%X Sa£¿etak Frontotemporal dementias (FTD) are the second most common type of presenile dementias, considered to be clinically and pathologically different from Alzheimer¡¯s dementia (AD). FTD differs clinically from AD because memory loss is rarely an early symptom. Instead, FTD is usually denoted by behavioural and language diffi culties, and may co-occur with motor neuron disease (MND). Frontotemporal lobar degeneration (FTLD) with ubiquitin-positive, tau-negative inclusions (FTLD-U) is the most common underlying pathology with and without MND. TAR DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene, has been identifi ed as the major pathological protein of FTLD-U with or without MND, demonstrating that abnormal TDP-43 alone is suffi cient to cause neurodegeneration. FTLD is a genetically complex disorder. A proportion of cases of FTLD-U have various pathogenic mutations in the progranulin (GRN) gene. Other FTLD-U entities with TDP-43 proteinopathy include FTLD-U with valosin-containing protein (VCP) gene mutation and FTLD with MND linked to chromosome 9p. In contrast, chromosome 3-linked dementia, a FTLD-U with chromatic modifying protein 2B (CHMP2B) mutation, has TDP-43 negative inclusions. Thus, TDP-43 defi nes a novel class of neurodegenerative diseases called TDP-43 proteinopathies. These recent discoveries will contribute to an accurate diagnosis, and facilitate the development of diagnosis and therapy
%K frontotemporal lobar degeneration
%K granulin
%K motor neuron disease
%K mutation
%K TARDBP
%K TDP-43 protein
%U https://hrcak.srce.hr/index.php?show=clanak&id_clanak_jezik=55194