1) Prusiner SB. The prion diseases. Brain Pathol. 1998; 8: 499-513
|
|
|
2) Yamada M. [Surveillance of prion diseases in Japan: analysis of 409 patients]. Rinsho Shinkeigaku. 2003; 43: 806-9
|
|
|
3) Kovacs GG, Puopolo M, Ladogana A, et al. Genetic prion disease: the EUROCJD experience. Hum Genet. 2005; 118: 166-74
|
|
|
4) Yamada M, Tomimitsu H, Yokota T, et al. Involvement of the spinal posterior horn in Gerstmann-Straussler-Scheinker disease (PrP P102L). Neurology. 1999; 52: 260-5
|
|
|
5) Arata H, Takashima H, Hirano R, et al. Early clinical signs and imaging findings in Gerstmann-Straussler-Scheinker syndrome (Pro102Leu). Neurology. 2006; 66: 1672-8
|
|
|
6) Hsiao K, Baker HF, Crow TJ, et al. Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome. Nature. 1989; 338: 342-5
|
|
|
7) Kovacs GG, Trabattoni G, Hainfellner JA, et al. Mutations of the prion protein gene phenotypic spectrum. J Neurol. 2002; 249: 1567-82
|
|
|
8) Ghetti B, Dlouhy SR, Giaccone G, et al. Gerstmann-Straussler-Scheinker disease and the Indiana kindred. Brain Pathol. 1995; 5: 61-75
|
|
|
9) Kitamoto T, Amano N, Terao Y, et al. A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. Ann Neurol. 1993; 34: 808-13
|
|
|
10) Kubo M, Nishimura T, Shikata E, et al. [A case of variant Gerstmann-Straussler-Scheinker disease with the mutation of codon P105L]. Rinsho Shinkeigaku. 1995; 35: 873-7
|
|
|
11) Piccardo P, Dlouhy SR, Lievens PM, et al. Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol. 1998; 57: 979-88
|
|
|
12) Laplanche JL, Hachimi KH, Durieux I, et al. Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain. 1999; 122 (Pt 12): 2375-86
|
|
|
13) 中村好一, 渡邉 至, 山田正仁, 他. サーベイランスによるプリオン病の疫学像に関する研究. 厚生労働科学研究補助金, 難治性疾患克服研究事業, 平成18年度総括報告書. 2007; 35-40
|
|
|
14) Muramoto T, Tanaka T, Kitamoto N, et al. Analyses of Gerstmann-Straussler syndrome with 102Leu219Lys using monoclonal antibodies that specifically detect human prion protein with 219Glu. Neurosci Lett. 2000; 288: 179-82
|
|
|
15) Wadsworth JD, Joiner S, Linehan JM, et al. Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein. Brain. 2006; 129: 1557-69
|
|
|
16) Vanik DL, Surewicz WK. Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational conversion to scrapie-like form. J Biol Chem. 2002; 277: 49065-70
|
|
|
17) Sugai F, Nakamori M, Nakatsuji Y, et al. [A case of Gerstmann-Straussler-Scheinker syndrome (P102L) accompanied by optic atrophy]. Rinsho Shinkeigaku. 2000; 40: 926-8
|
|
|
18) Tanaka Y, Minematsu K, Moriyasu H, et al. A Japanese family with a variant of Gerstmann-Straussler-Scheinker disease. J Neurol Neurosurg Psychiatry. 1997; 62: 454-7
|
|
|
19) Bianca M, Bianca S, Vecchio I, et al. Gerstmann-Straussler-Scheinker disease with P102L-V129 mutation: a case with psychiatric manifestations at onset. Ann Genet. 2003; 46: 467-9
|
|
|
20) Misumi M, Nishida Y, Araki S. [Patient with Gerstmann-Striussler-Scheinker syndrome (GSS P102L) presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI]. Rinsho Shinkeigaku. 2006; 46: 291-3
|
|
|
21) Minoshima S, Frey KA, Koeppe RA, et al. A diagnostic approach in Alzheimer's disease using three-dimensional stereotactic surface projections of fluorine-18-FDG PET. J Nucl Med. 1995; 36: 1238-48
|
|
|
22) 佐藤克也, 漸 調, 江口勝美. 孤発性プリオン病(孤発性古典型CJD, 視床型CJD, MM2皮質型CJD). 日本臨牀. 2007; 65: 1423-32
|
|
|
23) Shiraishi A, Mizusawa H, Yamada M. Early and persistent sensory-psychiatric symptoms in an inherited prion disease with a PrP P105L mutation. J Neurol. 2002; 249: 1740-1
|
|
|
24) Yamazaki M, Oyanagi K, Mori O, et al. Variant Gerstmann-Straussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles. Acta Neuropathol (Berl). 1999; 98: 506-11
|
|
|
25) Mastrianni JA, Curtis MT, Oberholtzer JC, et al. Prion disease (PrP-A117V) presenting with ataxia instead of dementia. Neurology. 1995; 45: 2042-50
|
|
|
26) Panegyres PK, Toufexis K, Kakulas BA, et al. A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease. Arch Neurol. 2001; 58: 1899-902
|
|
|
27) Hall DA, Leehey MA, Filley CM, et al. PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. Neurology. 2005; 64: 1304-6
|
|
|
28) Cervenakova L, Buetefisch C, Lee HS, et al. Novel PRNP sequence variant associated with familial encephalopathy. Am J Med Genet. 1999; 88: 653-6
|
|
|
29) Butefisch CM, Gambetti P, Cervenakova L, et al. Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. Neurology. 2000; 55: 517-22
|
|
|
30) Piccardo P, Seiler C, Dlouhy SR, et al. Proteinase-K-resistant prion protein isoforms in Gerstmann-Straussler-Scheinker disease (Indiana kindred). J Neuropathol Exp Neurol. 1996; 55: 1157-63
|
|
|
31) Piccardo P, Liepnieks JJ, William A, et al. Prion proteins with different conformations accumulate in Gerstmann-Straussler-Scheinker disease caused by A117V and F198S mutations. Am J Pathol. 2001; 158: 2201-7
|
|
|
32) 山田達夫, 坪井義夫. Creutzfeldt-Jakob病の治療: 体内埋め込み型微量注入器具を用いたペントサンポリサルフェート脳内持続投与療法の効果, および安全性に関する検討. 厚生労働科学研究補助金, 難治性疾患克服研究事業, 平成18年度総括報告書. 2007; 173-6
|
|
|
33) 堂浦克美, 川崎ゆり, 伊藤由美子, 他. 末梢投与型プリオン病治療予防薬の開発に関する研究. 厚生労働科学研究補助金, 難治性疾患克服研究事業, 平成18年度総括報告書. 2007; 177-80
|
|
|