AD-FTLD Spectrum: New Understanding of the Neurodegenerative Process from the Study of Risk Genes
作者： Masatoshi Takeda , Takashi Kudo , Toshihisa Tanaka , Masayasu Okochi , Ryota Hashimoto
DOI: 10.1007/978-4-431-53871-4_17
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摘要: Typical cases of primary neurodegenerative diseases causing dementia, such as Alzheimer’s disease (AD), diffuse Lewy body disease, frontotemporal lobar degeneration (FTLD), and corticobasal degeneration, show characteristic clinical signs symptoms, but there are some in which the differential diagnosis among dementias is difficult because their atypical presentation. Considering recent findings molecular genetics familial AD FTLD, relationship between causative genes becoming more complicated, concept an AD-FTLD spectrum proposed. Protein fragments derived from amyloid precursor proteins, tau TDP-43, deposited cerebral tissue patients with FLTD different degrees. In familial cases, these protein caused by mutations genes. The majority FTLD sporadic, wherein loss function presenilin progranulin increases risk disorders. Under AD-FTLD, it helpful to elucidate common pathway aggregated after partial proteolysis, phosphorylation, ubiquitination, leading formation angiopathy, senile plaque, neurofibrillary tangles, inclusion FTLD.
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