文献詳細
特集 前頭側頭葉変性症の今日的理解
文献概要
前頭側頭葉変性症(FTLD)とは,前頭・側頭葉に限局性の萎縮をきたし,行動障害や言語症状などを呈する疾患群の総称である。病理学的には,主としてタウ,TDP-43,FUSのいずれかの細胞内蓄積が認められる。FTLDの症候は多様であるが,近年の病理生化学的および遺伝学的研究の進歩により,臨床-病理-遺伝子の相関関係が明らかになってきており,本症の早期診断法や治療法開発につながると期待される。
参考文献
1)The Lund and Manchester Groups: Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 57: 416-418, 1994
2)Irwin DJ, Cairns NJ, Grossman M, McMillan CT, Lee EB, et al: Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine. Acta Neuropathol 129: 469-491, 2015
3)Ferrari R, Manzoni C, Hardy J: Genetics and molecular mechanisms of frontotemporal lobar degeneration: an update and future avenues. Neurobiol Aging 78: 98-110, 2019
4)Ratnavalli E, Brayne C, Dawson K, Hodges JR: The prevalence of frontotemporal dementia. Neurology 58: 1615-1621, 2002
5)Goldman JS, Farmer JM, Wood EM, Johnson JK, Boxer A, et al: Comparison of family histories in FTLD subtypes and related tauopathies. Neurology 65: 1817-1819, 2005
6)Chen RH, Chen YH, Huang TY: Ubiquitin-mediated regulation of autophagy. J Biomed Sci 26: 80, 2019[doi: 10.1186/s12929-019-0569-y]
7)田中啓二, 村田茂穂: タンパク質の品質管理と神経変性疾患. 日薬理誌122: 30-36, 2003
8)Prasad A, Bharathi V, Sivalingam V, Girdhar A, Patel BK: Molecular mechanisms of TDP-43 misfolding and pathology in amyotrophic lateral sclerosis. Front Mol Neurosci 12: 25, 2019[doi: 10.3389/fnmol.2019.00025]
9)Arai T, Ikeda K, Akiyama H, Nonaka T, Hasegawa M, et al: Identification of amino-terminally cleaved tau fragments that distinguish progressive supranuclear palsy from corticobasal degeneration. Ann Neurol 55: 72-79, 2004
10)Taniguchi-Watanabe S, Arai T, Kametani F, Nonaka T, Masuda-Suzukake M, et al: Biochemical classification of tauopathies by immunoblot, protein sequence and mass spectrometric analyses of sarkosyl-insoluble and trypsin-resistant tau. Acta Neuropathol 131: 267-280, 2016
11)Falcon B, Zhang W, Murzin AG, Murshudov G, Garringer HJ, et al: Structures of filaments from Pick's disease reveal a novel tau protein fold. Nature 561: 137-140, 2018
12)Tsuji H, Arai T, Kametani F, Nonaka T, Yamashita M, et al: Molecular analysis and biochemical classification of TDP-43 proteinopathy. Brain 135: 3380-3391, 2012
13)Arai T: Significance and limitation of the pathological classification of TDP-43 proteinopathy. Neuropathology 34: 578-588, 2014
14)Lee EB, Porta S, Michael Baer G, Xu Y, Suh ER, et al: Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration. Acta Neuropathol 134: 65-78, 2017
15)Pottier C, Ravenscroft TA, Sanchez-Contreras M, Rademakers R: Genetics of FTLD: overview and what else we can expect from genetic studies. J Neurochem 138 (Suppl 1): 32-53, 2016
16)Quadri M, Cossu G, Saddi V, Simons EJ, Murgia D, et al: Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia. Neurogenetics 12: 203-209, 2011
17)Nolan M, Talbot K, Ansorge O: Pathogenesis of FUS-associated ALS and FTD: insights from rodent models. Acta Neuropathol Commun 4: 99, 2016[doi: 10.1186/s40478-016-0358-8]
18)Sieben A, Van Langenhove T, Engelborghs S, Martin JJ, Boon P, et al: The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol 124: 353-372, 2012
19)高野弘基: 進行性核上性麻痺の分子遺伝学的研究最前線. 医療59: 461-464, 2005
20)Sydow A, Hochgräfe K, Könen S, Cadinu D, Matenia D, et al: Age-dependent neuroinflammation and cognitive decline in a novel Ala152Thr-Tau transgenic mouse model of PSP and AD. Acta Neuropathol Commun 4: 17, 2016[doi: 10.1186/s40478-016-0281-z]
21)Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, et al: Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 42: 234-239, 2010
22)van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, et al: TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol 127: 397-406, 2014
23)Becker LA, Huang B, Bieri G, Ma R, Knowles DA, et al: Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice. Nature 544: 367-371, 2017
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