Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
نویسندگان
چکیده
منابع مشابه
Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN).
Frontotemporal dementia with parkinsonism (FTDP) is a major neurodegenerative syndrome, particularly for those with symptoms beginning before age 65 years. A spectrum of degenerative disorders can present as sporadic or familial FTDP. Mutations in the gene encoding the microtubule-associated protein tau (MAPT; OMIM +157140) on chromosome 17 have been found in many kindreds with familial FTDP. S...
متن کاملFrontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) Authors: Doctors
Keywords Disease name Excluded diseases Diagnosis criteria / definition Differential diagnosis Frequency Clinical description Laboratory findings Management including treatment Etiology Diagnostic methods Genetic counseling Keywords References Abstract Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder caused by mutatio...
متن کاملNEUROLOGICAL REVIEW Refining Frontotemporal Dementia With Parkinsonism Linked to Chromosome 17 Introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)
F rontotemporal dementia with parkinsonism (FTDP) is a major neurodegenerative syndrome, particularly for those with symptoms beginning before age 65 years. A spectrum of degenerative disorders can present as sporadic or familial FTDP. Mutations in the gene encoding the microtubule-associated protein tau (MAPT; OMIM 157140) on chromosome 17 have been found in many kindreds with familial FTDP. S...
متن کاملFrontotemporal dementia and parkinsonism linked to chromosome 17.
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder caused by mutations in the MAPT gene which encodes the microtubule-associated protein tau. This hereditary tauopathy is a rare clinical syndrome, affecting approximately two hundred kindreds and about six hundred individuals bearing thirty nine known MAPT mutations. The...
متن کاملIn vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17.
BACKGROUND Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is associated with mutations in the Microtubule-Associated Protein Tau(MAPT) gene or the Progranulin(PGRN) gene. MAPT mutations lead to widespread deposition of hyperphosphorylated tau protein (FTDP-17T). PGRN mutations are associated with ubiquitin- and TDP-43-positive inclusions in the frontotemporal cortex,...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2006
ISSN: 1750-1172
DOI: 10.1186/1750-1172-1-30