ログイン
ランキング
お知らせ
ログイン
文献詳細
特集 Corticobasal Syndrome
文献概要
はじめに
大脳基底核変性症（corticobasal degeneration：CBD）と思われる臨床例の記載は，少なくとも1925年のLhermitteらによる報告までさかのぼり1)，病理学的には腫大神経細胞を認めるがピック嗜銀球を認めないピック病として認識されていた（ピック病グループBとされていた疾患に相当2)）。臨床像，病理像を一疾患単位として両面から記載したのは，1967，1968年のRebeizら3,4)が初めであり，臨床的に緩徐進行性に左半身優位の巧緻運動障害，寡動，不随意運動，皮質性感覚障害や失行などを呈し，末期まで認知機能障害は明らかでなかった3例の剖検例について報告している。病理学的所見としては前頭葉，頭頂葉の左右差のある萎縮，皮質および黒質，視床下核，歯状核，室頂核などの神経核の神経細胞脱落，反応性グリオーシス，腫大した無色素性神経細胞（swollen achromatic neuron，ballooned neuronと呼ばれる）の存在などの特徴を挙げ，既知の疾患概念に当てはまらない独立した疾患として“corticodentatonigral degeneration with neuronal achromasia”と名づけた4)。
その後しばらく，類似症例の報告は少数であったが1989年から1990年にかけて臨床像，病理像が再評価され，歯状核病変より基底核病変の重要性が強調されてcorticobasal degeneration5)，cortical-basal ganglionic degeneration6)あるいはcorticonigral degeneration with neuronal achromasia7,8)として報告が相次いだ。以降，分子病理学の進歩によりCBDは，進行性核上性麻痺（progressive supranuclear palsy：PSP），ピック病（以下，病理学的にピック嗜銀球，腫大神経細胞を認めるものを表す言葉として使用），嗜銀顆粒病（argyrophilic grain disease）などと同様に，神経細胞，グリア細胞（星状細胞および乏突起膠細胞）にタウ蛋白が蓄積する疾患（タウオパチー）であるが9,10)，特に星状細胞においては“astrocytic plaque”としてCBDに特徴的な蓄積形態を示すことが明らかになった11,12)。生化学的には蓄積するタウ蛋白のアイソフォームはピック病では3リピートタウ，CBDとPSPでは4リピートタウ（詳細後述）が主体であり13,14)，さらに不溶性分画内のタウ分解産物のパターンがCBDとPSPでは異なることが明らかになった15)。
上記のように多方面からCBDに固有の病理学的特徴が明確に確立された一方で，その臨床像は非常に多彩であることも明らかとなり5-8,16,17)，逆にRebeizらの報告に類似する古典的な臨床像，つまり片側優位の前頭・頭頂葉皮質に由来する運動・感覚症状および錐体外路症状を呈する例において，病理像，起因疾患が多彩であることも明らかとなってきた18-22)。このように“CBD”が表す臨床的概念と病理学的概念が一対一対応しないことから，近年では古典的な臨床像に対する臨床診断名としてCBS（corticobasal syndrome）を用い，病理診断名としてCBDが用いられるようになっている。CBSと類縁疾患の関係をFig.1に示す。
大脳基底核変性症（corticobasal degeneration：CBD）と思われる臨床例の記載は，少なくとも1925年のLhermitteらによる報告までさかのぼり1)，病理学的には腫大神経細胞を認めるがピック嗜銀球を認めないピック病として認識されていた（ピック病グループBとされていた疾患に相当2)）。臨床像，病理像を一疾患単位として両面から記載したのは，1967，1968年のRebeizら3,4)が初めであり，臨床的に緩徐進行性に左半身優位の巧緻運動障害，寡動，不随意運動，皮質性感覚障害や失行などを呈し，末期まで認知機能障害は明らかでなかった3例の剖検例について報告している。病理学的所見としては前頭葉，頭頂葉の左右差のある萎縮，皮質および黒質，視床下核，歯状核，室頂核などの神経核の神経細胞脱落，反応性グリオーシス，腫大した無色素性神経細胞（swollen achromatic neuron，ballooned neuronと呼ばれる）の存在などの特徴を挙げ，既知の疾患概念に当てはまらない独立した疾患として“corticodentatonigral degeneration with neuronal achromasia”と名づけた4)。
その後しばらく，類似症例の報告は少数であったが1989年から1990年にかけて臨床像，病理像が再評価され，歯状核病変より基底核病変の重要性が強調されてcorticobasal degeneration5)，cortical-basal ganglionic degeneration6)あるいはcorticonigral degeneration with neuronal achromasia7,8)として報告が相次いだ。以降，分子病理学の進歩によりCBDは，進行性核上性麻痺（progressive supranuclear palsy：PSP），ピック病（以下，病理学的にピック嗜銀球，腫大神経細胞を認めるものを表す言葉として使用），嗜銀顆粒病（argyrophilic grain disease）などと同様に，神経細胞，グリア細胞（星状細胞および乏突起膠細胞）にタウ蛋白が蓄積する疾患（タウオパチー）であるが9,10)，特に星状細胞においては“astrocytic plaque”としてCBDに特徴的な蓄積形態を示すことが明らかになった11,12)。生化学的には蓄積するタウ蛋白のアイソフォームはピック病では3リピートタウ，CBDとPSPでは4リピートタウ（詳細後述）が主体であり13,14)，さらに不溶性分画内のタウ分解産物のパターンがCBDとPSPでは異なることが明らかになった15)。
上記のように多方面からCBDに固有の病理学的特徴が明確に確立された一方で，その臨床像は非常に多彩であることも明らかとなり5-8,16,17)，逆にRebeizらの報告に類似する古典的な臨床像，つまり片側優位の前頭・頭頂葉皮質に由来する運動・感覚症状および錐体外路症状を呈する例において，病理像，起因疾患が多彩であることも明らかとなってきた18-22)。このように“CBD”が表す臨床的概念と病理学的概念が一対一対応しないことから，近年では古典的な臨床像に対する臨床診断名としてCBS（corticobasal syndrome）を用い，病理診断名としてCBDが用いられるようになっている。CBSと類縁疾患の関係をFig.1に示す。
参考文献
1) Ballan G, Tison F: A historical case of probable corticobasal degeneration? Mov Disord 12: 1073-1074, 1997
2) Constantinidis J, Richard J, Tissot R: Pick's disease: histological and clinical correlations. Eur Neurol 11: 208-217, 1974
3) Rebeiz JJ, Kolodny EH, Richardson EP Jr: Corticodentatonigral degeneration with neuronal achromasia: a progressive disorder of late adult life. Trans Am Neurol Assoc 92: 23-26, 1967
4) Rebeiz JJ, Kolodny EH, Richardson EP Jr: Corticodentatonigral degeneration with neuronal achromasia. Arch Neurol 18: 20-33, 1968
5) Gibb WR, Luthert PJ, Marsden CD: Corticobasal degeneration. Brain 112 (Pt 5): 1171-1192, 1989
6) Riley DE, Lang AE, Lewis A, Resch L, Ashby P, et al: Cortical-basal ganglionic degeneration. Neurology 40: 1203-1212, 1990
7) Lippa CF, Smith TW, Fontneau N: Corticonigral degeneration with neuronal achromasia. A clinicopathologic study of two cases. J Neurol Sci 98: 301-310, 1990
8) Paulus W, Selim M: Corticonigral degeneration with neuronal achromasia and basal neurofibrillary tangles. Acta Neuropathol 81: 89-94, 1990
9) Wakabayashi K, Oyanagi K, Makifuchi T, Ikuta F, Homma A, et al: Corticobasal degeneration: etiopathological significance of the cytoskeletal alterations. Acta Neuropathol 87: 545-553, 1994
10) Mori H, Nishimura M, Namba Y, Oda M: Corticobasal degeneration: a disease with widespread appearance of abnormal tau and neurofibrillary tangles, and its relation to progressive supranuclear palsy. Acta Neuropathol 88: 113-121, 1994
11) Feany MB, Dickson DW: Widespread cytoskeletal pathology characterizes corticobasal degeneration. Am J Pathol 146: 1388-1396, 1995
12) Komori T, Arai N, Oda M, Nakayama H, Mori H, et al: Astrocytic plaques and tufts of abnormal fibers do not coexist in corticobasal degeneration and progressive supranuclear palsy. Acta Neuropathol 96: 401-408, 1998
13) Arai T, Ikeda K, Akiyama H, Shikamoto Y, Tsuchiya K, et al: Distinct isoforms of tau aggregated in neurons and glial cells in brains of patients with Pick's disease, corticobasal degeneration and progressive supranuclear palsy. Acta Neuropathol 101: 167-173, 2001
14) Sergeant N, Wattez A, Delacourte A: Neurofibrillary degeneration in progressive supranuclear palsy and corticobasal degeneration: tau pathologies with exclusively "exon 10" isoforms. J Neurochem 72: 1243-1249, 1999
15) 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
16) Bergeron C, Pollanen MS, Weyer L, Black SE, Lang AE: Unusual clinical presentations of cortical-basal ganglionic degeneration. Ann Neurol 40: 893-900, 1996
17) Schneider JA, Watts RL, Gearing M, Brewer RP, Mirra SS: Corticobasal degeneration: neuropathologic and clinical heterogeneity. Neurology 48: 959-969, 1997
18) Boeve BF, Maraganore DM, Parisi JE, Ahlskog JE, Graff-Radford N, et al: Pathologic heterogeneity in clinically diagnosed corticobasal degeneration. Neurology 53: 795-800, 1999
19) Tartaglia MC, Sidhu M, Laluz V, Racine C, Rabinovici GD, et al: Sporadic corticobasal syndrome due to FTLD-TDP. Acta Neuropathol 119: 365-374, 2010
20) Miyaji Y, Koyama K, Kurokawa T, Mitomi M, Suzuki Y, et al: Vascular corticobasal syndrome caused by unilateral internal carotid artery occlusion. J Stroke Cerebrovasc Dis, 2012 Aug 28 ［Epub ahead of print］
21) Boeve BF: The multiple phenotypes of corticobasal syndrome and corticobasal degeneration: implications for further study. J Mol Neurosci 45: 350-353, 2011
22) 饗場郁子: Corticobasal syndrome――最近の進歩と今後の課題. Brain Nerve 64: 462-473, 2012
23) Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, et al: Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 43: 815-825, 1998
24) Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, et al: Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17．Nature 393: 702-705, 1998
25) Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, et al: Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci U S A 95: 7737-7741, 1998
26) Harvey RJ, Skelton-Robinson M, Rossor MN: The prevalence and causes of dementia in people under the age of 65 years. J Neurol Neurosurg Psychiatry 74: 1206-1209, 2003
27) Ratnavalli E, Brayne C, Dawson K, Hodges JR: The prevalence of frontotemporal dementia. Neurology 58: 1615-1621, 2002
28) Ikejima C, Yasuno F, Mizukami K, Sasaki M, Tanimukai S, et al: Prevalence and causes of early-onset dementia in Japan: a population-based study. Stroke 40: 2709-2714, 2009
29) Rosso SM, Donker Kaat L, Baks T, Joosse M, de Koning I, et al: Frontotemporal dementia in the Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain 126: 2016-2022, 2003
30) 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
31) Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, et al: The heritability and genetics of frontotemporal lobar degeneration. Neurology 73: 1451-1456, 2009
32) Ikeda M, Ishikawa T, Tanabe H: Epidemiology of frontotemporal lobar degeneration. Dement Geriatr Cogn Disord 17: 265-268, 2004
33) Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, et al: Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17．Nature 442: 916-919, 2006
34) Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, et al: Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21．Nature 442: 920-924, 2006
35) DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, et al: Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256, 2011
36) Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, et al: A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72: 257-268, 2011
37) Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, et al: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 36: 377-381, 2004
38) Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, et al: Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 37: 806-808, 2005
39) Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC: Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry 82: 476-486, 2011
40) 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
41) Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, et al: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40: 572-574, 2008
42) Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, et al: TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63: 535-538, 2008
43) Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, et al: TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol 63: 538-542, 2008
44) Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, et al: Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323: 1205-1208, 2009
45) Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, et al: Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6．Science 323: 1208-1211, 2009
46) Huey ED, Ferrari R, Moreno JH, Jensen C, Morris CM, et al: FUS and TDP43 genetic variability in FTD and CBS. Neurobiol Aging 33: 1016．e9-1016．e17, 2012
47) Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, et al: Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477: 211-215, 2011
48) Synofzik M, Maetzler W, Grehl T, Prudlo J, Vom Hagen JM, et al: Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging 33: 2949．e13-2949．e17, 2012
49) Groen JJ, Endtz LJ: Hereditary Pick's disease: second re-examination of the large family and discussion of other hereditary cases, with particular reference to electroencephalography, a computerized tomography. Brain 105 (Pt 3): 443-459, 1982
50) Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, et al: Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol 32: 312-320, 1992
51) Sumi SM, Bird TD, Nochlin D, Raskind MA: Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala. Neurology 42: 120-127, 1992
52) Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG: Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22．Am J Hum Genet 55: 1159-1165, 1994
53) Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, et al: Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. Ann Neurol 41: 706-715, 1997
54) D'Souza I, Schellenberg GD: Regulation of tau isoform expression and dementia. Biochim Biophys Acta 1739: 104-115, 2005
55) Bugiani O, Murrell JR, Giaccone G, Hasegawa M, Ghigo G, et al: Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 58: 667-677, 1999
56) Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, et al: Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol 119: 1-4, 2010
57) Goedert M, Spillantini MG, Jakes R, Rutherford D, Crowther RA: Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3: 519-526, 1989
58) Hutton M: Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms. Neurology 56: S21-S25, 2001
59) Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, et al: Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17．Science 282: 1914-1917, 1998
60) Hasegawa M, Smith MJ, Goedert M: Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett 437: 207-210, 1998
61) Arrasate M, Perez M, Armas-Portela R, Avila J: Polymerization of tau peptides into fibrillar structures: the effect of FTDP-17 mutations. FEBS Lett 446: 199-202, 1999
62) Goedert M, Jakes R, Crowther RA: Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments. FEBS Lett 450: 306-311, 1999
63) Nacharaju P, Lewis J, Easson C, Yen S, Hackett J, et al: Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. FEBS Lett 447: 195-199, 1999
64) von Bergen M, Barghorn S, Li L, Marx A, Biernat J, et al: Mutations of tau protein in frontotemporal dementia promote aggregation of paired helical filaments by enhancing local beta-structure. J Biol Chem 276: 48165-48174, 2001
65) Stanford PM, Shepherd CE, Halliday GM, Brooks WS, Schofield PW, et al: Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia. Brain 126: 814-826, 2003
66) van Swieten JC, Bronner IF, Azmani A, Severijnen LA, Kamphorst W, et al: The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo. J Neuropathol Exp Neurol 66: 17-25, 2007
67) Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, et al: Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet 21: 3500-3512, 2012
68) Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, et al: Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 41: 277-281, 1997
69) Baker M, Litvan I, Houlden H, Adamson J, Dickson D, et al: Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 8: 711-715, 1999
70) Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, et al: A common inversion under selection in Europeans. Nat Genet 37: 129-137, 2005
71) Di Maria E, Tabaton M, Vigo T, Abbruzzese G, Bellone E, et al: Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann Neurol 47: 374-377, 2000
72) Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, et al: Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 56: 1702-1706, 2001
73) Litvan I, Chism A, Litvan J, Cambon A, Hutton M: H1/H1 genotype influences symptom severity in corticobasal syndrome. Mov Disord 25: 760-763, 2010
74) Evans W, Fung HC, Steele J, Eerola J, Tienari P, et al: The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett 369: 183-185, 2004
75) Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, et al: Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet 42: 837-846, 2005
76) Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, et al: High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet 14: 3281-3292, 2005
77) Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, et al: The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis 25: 561-570, 2007
78) Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, et al: Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 43: 699-705, 2011
79) Tuite PJ, Clark HB, Bergeron C, Bower M, St George-Hyslop P, et al: Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. Arch Neurol 62: 1453-1457, 2005
80) Jung HH, Bremer J, Streffer J, Virdee K, Spillantini MG, et al: Phenotypic variation of autosomal-dominant corticobasal degeneration. Eur Neurol 67: 142-150, 2012
81) Masellis M, Momeni P, Meschino W, Heffner R Jr, Elder J, et al: Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain 129 (Pt 11): 3115-3123, 2006
82) Benussi L, Binetti G, Sina E, Gigola L, Bettecken T, et al: A novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging 29: 427-435, 2008
83) Liu CJ, Bosch X: Progranulin: a growth factor, a novel TNFR ligand and a drug target. Pharmacol Ther 133: 124-132, 2012
84) van Swieten JC, Heutink P: Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol 7: 965-974, 2008
85) Gijselinck I, van der Zee J, Engelborghs S, Goossens D, Peeters K, et al: Progranulin locus deletion in frontotemporal dementia. Hum Mutat 29: 53-58, 2008
86) Shankaran SS, Capell A, Hruscha AT, Fellerer K, Neumann M, et al: Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. J Biol Chem 283: 1744-1753, 2008
87) Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, et al: Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet 90: 1102-1107, 2012
88) Cairns NJ, Neumann M, Bigio EH, Holm IE, Troost D, et al: TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol 171: 227-240, 2007
89) Tang W, Lu Y, Tian QY, Zhang Y, Guo FJ, et al: The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice. Science 332: 478-484, 2011
90) Martens LH, Zhang J, Barmada SJ, Zhou P, Kamiya S, et al: Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury. J Clin Invest 122: 3955-3959, 2012
91) Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, et al: Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet 17: 3631-3642, 2008
92) 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
93) Cruchaga C, Graff C, Chiang HH, Wang J, Hinrichs AL, et al: Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Arch Neurol 68: 581-586, 2011
94) Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, et al: TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology 76: 467-474, 2011
95) Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, et al: A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 66: 839-844, 2006
96) Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, et al: Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3．Brain 129: 868-876, 2006
97) van Es MA, Veldink JH, Saris CG, Blauw HM, Van Vught PW, et al: Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 41: 1083-1087, 2009
98) Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, et al: Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 9: 978-985, 2010
99) Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, et al: Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 9: 986-994, 2010
100) van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, et al: A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. Hum Mutat, 2012 Oct 30 ［Epub ahead of print］
101) Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, et al: Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging 33: 2527．e11-2527．e16, 2012
102) Ogaki K, Li Y, Takanashi M, Ishikawa KI, Kobayashi T, et al: Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS. Parkinsonism Relat Disord, 2012 Jul 18 ［Epub ahead of print］
103) Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, et al: C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol 69: 1154-1158, 2012
104) Lindquist S, Duno M, Batbayli M, Puschmann A, Braendgaard H, et al: Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet, 2012 May 31 ［Epub ahead of print］
105) Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, et al: Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857-864, 2010
106) Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, et al: Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 33: 2231．e1-2231．e6, 2012
107) Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, et al: A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol 55: 617-626, 2004
108) Robles A, Sobrido MJ, García-Murias M, Prieto JM, Lema M, et al: Clinical picture of a patient with a novel PSEN1 mutation (L424V). Am J Alzheimers Dis Other Demen 24: 40-45, 2009
109) Chen-Plotkin AS, Yuan W, Anderson C, McCarty Wood E, Hurtig HI, et al: Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations. Neurology 70: 521-527, 2008
110) 山田正仁, 篠原もえ子, 浜口 毅, 野崎一朗, 坂井健二: 日本におけるヒト・プリオン病のサーベイランスと疫学的実態. 厚生労働科学研究費補助金難治性疾患克服研究事業「プリオン病及び遅発性ウィルス感染症に関する調査研究班」（編): プリオン病と遅発性ウイルス感染症. 金原出版, 東京, 2010, pp16-21
111) 浜口 毅, 野崎一朗, 篠原もえ子, 山田正仁: 特発性プリオン病（孤発性クロイツフェルトヤコブ病)――臨床病型の特徴と診断のポイント. 厚生労働科学研究費補助金難治性疾患克服研究事業「プリオン病及び遅発性ウィルス感染症に関する調査研究班」（編): プリオン病と遅発性ウイルス感染症. 金原出版, 東京, 2010, pp112-118
112) Lee W, Simpson M, Ling H, McLean C, Collins S, et al: Characterising the uncommon corticobasal syndrome presentation of sporadic Creutzfeldt-Jakob disease. Parkinsonism Relat Disord, 2012 Aug 31 ［Epub ahead of print］
113) Magherini A, Pentore R, Galassi G, Stucchi CM, Capellari S, et al: MV2 subtype of sporadic Creutzfeldt-Jakob disease presenting as corticobasal syndrome. Mov Disord 22: 898-899, 2007
114) Iwasaki Y, Mori K, Ito M, Nagaoka M, Ieda T, et al: An autopsied case of V180I Creutzfeldt-Jakob disease presenting with panencephalopathic-type pathology and a characteristic prion protein type. Neuropathology 31: 540-548, 2011
115) Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, et al: Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51: 1546-1554, 1998
116) McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, et al: Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 58: 1803-1809, 2001
117) Gorno-Tempini ML, Hillis AE, Weintraub S, Kertesz A, Mendez M, et al: Classification of primary progressive aphasia and its variants. Neurology 76: 1006-1014, 2011
掲載誌情報
