緩徐な臨床経過後に急速進行性認知機能障害を呈しE200K変異にコドン219Lys多型を伴った遺伝性Creutzfeldt-Jakob diseaseの1例

症例は57歳男性．4年前より緩徐進行性の遂行機能障害と言語症状があり前頭側頭型認知症にて外来加療中であった．その後4か月間で急速な認知機能障害と歩行障害を呈した．頭部MRI拡散強調像で両側大脳皮質と右尾状核に異常高信号域を認め，髄液14-3-3蛋白，総タウ蛋白が陽性であった．脳波上周期性同期性放電はなかった．プリオン蛋白遺伝子検査では，E200K変異に加えて，対立遺伝子上にコドン219Lys多型が存在し，遺伝性クロイツフェルト・ヤコブ病（Creutzfeldt-Jakob disease; CJD）と診断した．本症例の臨床経過は今までの典型的なE200K遺伝性CJDとは異なり，219Lys多型...

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Published in臨床神経学 Vol. 58; no. 11; pp. 682 - 687
Main Authors 高柳, 美佳, 佐藤, 克也, 平田, 幸一, 鈴木, 圭輔, 中村, 利生, 北本, 哲之
Format Journal Article
LanguageJapanese
Published 日本神経学会 2018
Subjects
クロイツフェルト・ヤコブ病
プリオン蛋白遺伝子変異
前頭側頭型認知症
緩徐進行性
Online AccessGet full text
ISSN0009-918X
1882-0654
DOI10.5692/clinicalneurol.cn-001206

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Abstract 症例は57歳男性．4年前より緩徐進行性の遂行機能障害と言語症状があり前頭側頭型認知症にて外来加療中であった．その後4か月間で急速な認知機能障害と歩行障害を呈した．頭部MRI拡散強調像で両側大脳皮質と右尾状核に異常高信号域を認め，髄液14-3-3蛋白，総タウ蛋白が陽性であった．脳波上周期性同期性放電はなかった．プリオン蛋白遺伝子検査では，E200K変異に加えて，対立遺伝子上にコドン219Lys多型が存在し，遺伝性クロイツフェルト・ヤコブ病（Creutzfeldt-Jakob disease; CJD）と診断した．本症例の臨床経過は今までの典型的なE200K遺伝性CJDとは異なり，219Lys多型の稀な合併が影響した可能性が示唆された．
AbstractList 症例は57歳男性．4年前より緩徐進行性の遂行機能障害と言語症状があり前頭側頭型認知症にて外来加療中であった．その後4か月間で急速な認知機能障害と歩行障害を呈した．頭部MRI拡散強調像で両側大脳皮質と右尾状核に異常高信号域を認め，髄液14-3-3蛋白，総タウ蛋白が陽性であった．脳波上周期性同期性放電はなかった．プリオン蛋白遺伝子検査では，E200K変異に加えて，対立遺伝子上にコドン219Lys多型が存在し，遺伝性クロイツフェルト・ヤコブ病（Creutzfeldt-Jakob disease; CJD）と診断した．本症例の臨床経過は今までの典型的なE200K遺伝性CJDとは異なり，219Lys多型の稀な合併が影響した可能性が示唆された．
Author 鈴木, 圭輔
北本, 哲之
佐藤, 克也
平田, 幸一
高柳, 美佳
中村, 利生
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  organization: 東北大学大学院医学系研究科病態神経学分野
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References 1) Mackenzie G, Will R. Creutzfeldt-Jakob disease: recent developments. F1000Res 2017;6:2053.
19) Seno H, Tashiro H, Ishino H, et al. New haplotype of familial Creutzfeldt-Jakob disease with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family. Acta Neuropathol 2000;99:125-130.
18) Kim MO, Cali I, Oehler A, et al. Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases. Acta Neuropathol Commun 2013;1:80.
5) Shiga Y, Miyazawa K, Sato S, et al. Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease. Neurology 2004;63:443-449.
8) Geschwind MD. Prion diseases. Continuum (Minneap Minn) 2015;21:1612-1638.
7) Carswell C, Thompson A, Lukic A, et al. MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease. BMC Neurol 2012;12:153.
14) Hamaguchi T, Kitamoto T, Sato T, et al. Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology 2005;64:643-648.
3) Higuma M, Sanjo N, Satoh K, et al. Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. PLoS One 2013;8:e60003.
4) Takada LT, Kim MO, Cleveland RW, et al. Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. Am J Med Genet B Neuropsychiatr Genet 2017;174:36-69.
10) Qina T, Sanjo N, Hizume M, et al. Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene. BMJ Open 2014;4:e004968.
13) Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999;46:224-233.
9) Wieser HG, Schindler K, Zumsteg D. EEG in Creutzfeldt-Jakob disease. Clin Neurophysiol 2006;117:935-951.
21) Tanaka Y, Minematsu K, Moriyasu H, et al. A Japanese family with a variant of Gerstmann-Straussler-Scheinker disease. J Neurol Neurosurg Psychiatry 1997;62:454-457.
15) 清水　洋，志賀裕正，松本有史ら．発症から10年が経過したプリオン蛋白V180I変異Creutzfeldt-Jakob病患者における頭部MRI画像所見の変遷．臨床神経 2013;53:235-238.
11) Cohen OS, Chapman J, Korczyn AD, et al. Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. J Neurol 2015;262:604-613.
6) Suzuki K, Kawasaki A, Nagashima T, et al. Diffusion-weighted MRI abnormalities antedate the onset of sporadic Creutzfeldt-Jakob disease. Neurology 2016;87:843-845.
20) Furukawa H, Kitamoto T, Tanaka Y, et al. New variant prion protein in a Japanese family with Gerstmann-Straussler syndrome. Brain Res Mol Brain Res 1995;30:385-388.
16) Cohen OS, Kimiagar I, Korczyn AD, et al. Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease. Eur J Neurol 2016;23:871-877.
12) Breithaupt M, Romero C, Kallenberg K, et al. Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene. Alzheimer Dis Assoc Disord 2013;27:87-90.
17) Cohen OS, Chapman J, Korczyn AD, et al. Characterization of sleep disorders in patients with E200K familial Creutzfeldt-Jakob disease. J Neurol 2015;262:443-450.
2) 児矢野繁，岸田日帯，田中章景．遺伝性（家族性）プリオン病の臨床病型と診断．神経内科 2016;84:224-230.
References_xml – reference: 8) Geschwind MD. Prion diseases. Continuum (Minneap Minn) 2015;21:1612-1638.
– reference: 15) 清水　洋，志賀裕正，松本有史ら．発症から10年が経過したプリオン蛋白V180I変異Creutzfeldt-Jakob病患者における頭部MRI画像所見の変遷．臨床神経 2013;53:235-238.
– reference: 9) Wieser HG, Schindler K, Zumsteg D. EEG in Creutzfeldt-Jakob disease. Clin Neurophysiol 2006;117:935-951.
– reference: 17) Cohen OS, Chapman J, Korczyn AD, et al. Characterization of sleep disorders in patients with E200K familial Creutzfeldt-Jakob disease. J Neurol 2015;262:443-450.
– reference: 7) Carswell C, Thompson A, Lukic A, et al. MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease. BMC Neurol 2012;12:153.
– reference: 12) Breithaupt M, Romero C, Kallenberg K, et al. Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene. Alzheimer Dis Assoc Disord 2013;27:87-90.
– reference: 21) Tanaka Y, Minematsu K, Moriyasu H, et al. A Japanese family with a variant of Gerstmann-Straussler-Scheinker disease. J Neurol Neurosurg Psychiatry 1997;62:454-457.
– reference: 14) Hamaguchi T, Kitamoto T, Sato T, et al. Clinical diagnosis of MM2-type sporadic Creutzfeldt-Jakob disease. Neurology 2005;64:643-648.
– reference: 16) Cohen OS, Kimiagar I, Korczyn AD, et al. Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease. Eur J Neurol 2016;23:871-877.
– reference: 10) Qina T, Sanjo N, Hizume M, et al. Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene. BMJ Open 2014;4:e004968.
– reference: 18) Kim MO, Cali I, Oehler A, et al. Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases. Acta Neuropathol Commun 2013;1:80.
– reference: 2) 児矢野繁，岸田日帯，田中章景．遺伝性（家族性）プリオン病の臨床病型と診断．神経内科 2016;84:224-230.
– reference: 19) Seno H, Tashiro H, Ishino H, et al. New haplotype of familial Creutzfeldt-Jakob disease with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family. Acta Neuropathol 2000;99:125-130.
– reference: 3) Higuma M, Sanjo N, Satoh K, et al. Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. PLoS One 2013;8:e60003.
– reference: 5) Shiga Y, Miyazawa K, Sato S, et al. Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease. Neurology 2004;63:443-449.
– reference: 20) Furukawa H, Kitamoto T, Tanaka Y, et al. New variant prion protein in a Japanese family with Gerstmann-Straussler syndrome. Brain Res Mol Brain Res 1995;30:385-388.
– reference: 4) Takada LT, Kim MO, Cleveland RW, et al. Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. Am J Med Genet B Neuropsychiatr Genet 2017;174:36-69.
– reference: 1) Mackenzie G, Will R. Creutzfeldt-Jakob disease: recent developments. F1000Res 2017;6:2053.
– reference: 6) Suzuki K, Kawasaki A, Nagashima T, et al. Diffusion-weighted MRI abnormalities antedate the onset of sporadic Creutzfeldt-Jakob disease. Neurology 2016;87:843-845.
– reference: 13) Parchi P, Giese A, Capellari S, et al. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999;46:224-233.
– reference: 11) Cohen OS, Chapman J, Korczyn AD, et al. Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. J Neurol 2015;262:604-613.
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SubjectTerms クロイツフェルト・ヤコブ病
プリオン蛋白遺伝子変異
前頭側頭型認知症
緩徐進行性
Title 緩徐な臨床経過後に急速進行性認知機能障害を呈しE200K変異にコドン219Lys多型を伴った遺伝性Creutzfeldt-Jakob diseaseの1例
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