Frontotemporal dementia (FTD) and genetic mutations including progranulin gene
-
- Arai Tetsuaki
- Department of Psychogeriatrics, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research
-
- Hasegawa Masato
- Department of Molecular Neurobiology, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research
-
- Nishihara Masugi
- Department of Veterinary Physiology, Veterinary Medical Science, The University of Tokyo
-
- Nonaka Takashi
- Department of Molecular Neurobiology, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research
-
- Kametani Fuyuki
- Department of Molecular Neurobiology, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research
-
- Yoshida Mari
- Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University
-
- Hashizume Yoshio
- Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University
-
- Beach Thomas G
- Sun Health Research Institute
-
- Morita Mitsuya
- Department of Neurology, Jichi Medical University
-
- Nakano Imaharu
- Department of Neurology, Jichi Medical University
-
- Oda Tatsuro
- Department of Neuropsychiatry, National Shimofusa Mental Hospital
-
- Tsuchiya Kuniaki
- Department of Laboratory Medicine and Pathology, Tokyo Metropolitan Matsuzawa Hospital
-
- Akiyama Haruhiko
- Department of Psychogeriatrics, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research
Bibliographic Information
- Other Title
-
- シンポジウム9‐1 前頭側頭型認知症(FTD)をめぐる基礎と臨床の最前線 遺伝子変異とFTD:Progranulin遺伝子をふくめて
- 遺伝子変異とFTD--Progranulin遺伝子をふくめて
- イデンシ ヘンイ ト FTD Progranulin イデンシ オ フクメテ
Search this article
Abstract
Research on familial frontotemporal lobar degeneration (FTLD) has led to the discovery of disease-causing genes: microtubule-associated protein tau (MAPT), progranulin (PGRN) and valosin-containing protein (VCP). TAR DNA-binding protein of 43kDa (TDP-43) has been identified as a major component of tau-negative ubiquitin-positive inclusions in familial and sporadic FTLD and amyotrophic lateral sclerosis (ALS), which are now referred to as TDP-43 proteinopathy. Recent findings of mutations in TDP-43 gene in familial and sporadic ALS cases confirm the pathogenetic role for TDP-43 in neurodegeneration.<br> TDP-43 proteinopathies have been classified into 4 pathological subtypes. Type 1 is characterized by numerous dystrophic neurites (DNs), Type 2 has numerous neuronal cytoplasmic inclusions (NCIs), Type 3 has NCIs and DNs and Type 4 has neuronal intranuclear inclusions (NIIs) and DNs. There is a close relationship between such pathological subtypes of TDP-43 proteinopathy and the immunoblot pattern of C-terminal fragments of accumulated TDP-43. These results parallel our earlier findings of differing C-terminal tau fragments in progressive supranuclear palsy and corticobasal degeneration, despite identical composition of tau isoforms. Taken together, these results suggest that elucidating the mechanism of C-terminal fragment origination may shed light on the pathogenesis of several neurodegenerative disorders involving TDP-43 proteinopathy and tauopathy.<br>
Journal
-
- Rinsho Shinkeigaku
-
Rinsho Shinkeigaku 48 (11), 990-993, 2008
Societas Neurologica Japonica
- Tweet
Details 詳細情報について
-
- CRID
- 1390282680012873984
-
- NII Article ID
- 10024898770
-
- NII Book ID
- AN00253207
-
- ISSN
- 18820654
- 0009918X
-
- NDL BIB ID
- 9758030
-
- Text Lang
- ja
-
- Data Source
-
- JaLC
- NDL
- Crossref
- CiNii Articles
-
- Abstract License Flag
- Disallowed