転倒発作と反復する一過性の言語障害を呈したY69H (p.Y89H)変異型遺伝性トランスサイレチン髄膜アミロイドーシスの1例
症例は73歳女性．66歳時より，1～2日で回復する一過性言語障害，右手指感覚障害の発作を数ヶ月ごとに反復するようになった．71歳，振戦と歩行障害を発症し，転倒を繰り返した．発作時は音韻性錯語，文章の聴理解障害，失書が悪化した．72歳入院時の脳および脊髄造影MRIで髄膜がびまん性に造影効果を示し，脊髄髄膜生検で，くも膜やくも膜下腔の血管壁に抗トランスサイレチン抗体で標識されるアミロイドの沈着を認め，髄膜アミロイドーシスと診断した．また，トランスサイレチン遺伝子にY69H (p.Y89H)変異を認めた．一過性局所神経徴候を繰り返す症例では，トランスサイレチン髄膜アミロイドーシスの鑑別も要する．...
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| Published in | 臨床神経学 Vol. 63; no. 10; pp. 650 - 655 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経学会
2023
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-918X 1882-0654 |
| DOI | 10.5692/clinicalneurol.cn-001852 |
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| Abstract | 症例は73歳女性．66歳時より，1～2日で回復する一過性言語障害，右手指感覚障害の発作を数ヶ月ごとに反復するようになった．71歳，振戦と歩行障害を発症し，転倒を繰り返した．発作時は音韻性錯語，文章の聴理解障害，失書が悪化した．72歳入院時の脳および脊髄造影MRIで髄膜がびまん性に造影効果を示し，脊髄髄膜生検で，くも膜やくも膜下腔の血管壁に抗トランスサイレチン抗体で標識されるアミロイドの沈着を認め，髄膜アミロイドーシスと診断した．また，トランスサイレチン遺伝子にY69H (p.Y89H)変異を認めた．一過性局所神経徴候を繰り返す症例では，トランスサイレチン髄膜アミロイドーシスの鑑別も要する． |
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| AbstractList | 症例は73歳女性．66歳時より，1～2日で回復する一過性言語障害，右手指感覚障害の発作を数ヶ月ごとに反復するようになった．71歳，振戦と歩行障害を発症し，転倒を繰り返した．発作時は音韻性錯語，文章の聴理解障害，失書が悪化した．72歳入院時の脳および脊髄造影MRIで髄膜がびまん性に造影効果を示し，脊髄髄膜生検で，くも膜やくも膜下腔の血管壁に抗トランスサイレチン抗体で標識されるアミロイドの沈着を認め，髄膜アミロイドーシスと診断した．また，トランスサイレチン遺伝子にY69H (p.Y89H)変異を認めた．一過性局所神経徴候を繰り返す症例では，トランスサイレチン髄膜アミロイドーシスの鑑別も要する． |
| Author | 黒羽, 泰子 他田, 真理 渡邊, 慶 長谷川, 有香 齋藤, 奈つみ 柿田, 明美 髙橋, 哲哉 |
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| References | 13) 大槻美佳．原発性進行性失語の分類と診断 今日のコンセンサスと問題点．Brain Nerve 2020;72:611-621. 1) Blevins G, Macaulay R, Harder S, et al. Oculoleptomeningeal amyloidosis in large kindred with a new transthyretin variant Tyr69His. Neurology 2003;60:1625-1630. 6) Ricardo T, Luisa S, Miguel P, et al. Neuropathology of central nervous system involvement in TTR amyloidosis. Acta Neuropathologica 2023;145:113-126. 12) Gorno-Tempini ML, Hillis AE, Weintraub S, et al. Classification of primary progressive aphasia and its variants. Neurology 2011;76:1006-1014. 5) Yamada Y, Fukushima T, Kodama S, et al. A case of cerebral amyloid angiopathy-type hereditary ATTR amyloidosis with Y69H (p.Y89H) variant displaying transient focal neurological episodes as the main symptom. Amyloid 2019;26:251-252. 11) Nakajima M, Takeuchi Y, Nagao Y, et al. Comparison of clinical features in transient focal neurological episodes between hereditary transthyretin type and Aβ type cerebral amyloid angiopathy. Amyloid 2019;26:81-82. 15) Buciuc M, Whitwell JL, Kasanuki K, et al. Lewy body disease is a contributor to logopenic progressive aphasia phenotype. Ann Neurol 2021;89:520-533. 9) Attems J, Jellinger K, Thal DR, et al. Sporadic cerebral amyloid angiopathy. Neuropathol Appl Neurobiol 2011;37:75-93. 10) Yamada M. Cerebral Amyloid angiopathy: emerging concepts. J Stroke 2015;17:17-30. 4) Ziskin JL, Greicius MD, Zhu W, et al. Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. Acta Neuropathologica Communications 2015;3:43. 16) Josephs KA, Murray ME, Whitwell JL, et al. Staging TDP-43 pathology in Alzheimer’s disease. Acta Neuropathol 2014;127:441-450. 14) Bergeron D, Gorno-Tempini ML, Rabinovici GD, et al. Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia. Ann Neurol 2018;84:729-740. 2) Schweitzer K, Ehmann D, Garcia R, et al. Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His. Can J Ophthalmol 2009;44:317-319. 7) Qi Q, Cuibai W, YueShan P, et al. Current review of leptomeningeal amyloidosis associated with transthyretin mutations. Neurologist 2021;26:189-195. 3) Suhr OB, Andersen O, Aronsson T, et al. Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden. Amyloid 2009;16:208-214. 8) Garzuly F, Vidal R, Wisniewski T, et al. Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly). Neurology 1996;47:1562-1567. |
| References_xml | – reference: 10) Yamada M. Cerebral Amyloid angiopathy: emerging concepts. J Stroke 2015;17:17-30. – reference: 16) Josephs KA, Murray ME, Whitwell JL, et al. Staging TDP-43 pathology in Alzheimer’s disease. Acta Neuropathol 2014;127:441-450. – reference: 5) Yamada Y, Fukushima T, Kodama S, et al. A case of cerebral amyloid angiopathy-type hereditary ATTR amyloidosis with Y69H (p.Y89H) variant displaying transient focal neurological episodes as the main symptom. Amyloid 2019;26:251-252. – reference: 15) Buciuc M, Whitwell JL, Kasanuki K, et al. Lewy body disease is a contributor to logopenic progressive aphasia phenotype. Ann Neurol 2021;89:520-533. – reference: 4) Ziskin JL, Greicius MD, Zhu W, et al. Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. Acta Neuropathologica Communications 2015;3:43. – reference: 11) Nakajima M, Takeuchi Y, Nagao Y, et al. Comparison of clinical features in transient focal neurological episodes between hereditary transthyretin type and Aβ type cerebral amyloid angiopathy. Amyloid 2019;26:81-82. – reference: 7) Qi Q, Cuibai W, YueShan P, et al. Current review of leptomeningeal amyloidosis associated with transthyretin mutations. Neurologist 2021;26:189-195. – reference: 8) Garzuly F, Vidal R, Wisniewski T, et al. Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly). Neurology 1996;47:1562-1567. – reference: 9) Attems J, Jellinger K, Thal DR, et al. Sporadic cerebral amyloid angiopathy. Neuropathol Appl Neurobiol 2011;37:75-93. – reference: 14) Bergeron D, Gorno-Tempini ML, Rabinovici GD, et al. Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia. Ann Neurol 2018;84:729-740. – reference: 1) Blevins G, Macaulay R, Harder S, et al. Oculoleptomeningeal amyloidosis in large kindred with a new transthyretin variant Tyr69His. Neurology 2003;60:1625-1630. – reference: 12) Gorno-Tempini ML, Hillis AE, Weintraub S, et al. Classification of primary progressive aphasia and its variants. Neurology 2011;76:1006-1014. – reference: 2) Schweitzer K, Ehmann D, Garcia R, et al. Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His. Can J Ophthalmol 2009;44:317-319. – reference: 6) Ricardo T, Luisa S, Miguel P, et al. Neuropathology of central nervous system involvement in TTR amyloidosis. Acta Neuropathologica 2023;145:113-126. – reference: 3) Suhr OB, Andersen O, Aronsson T, et al. Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden. Amyloid 2009;16:208-214. – reference: 13) 大槻美佳．原発性進行性失語の分類と診断 今日のコンセンサスと問題点．Brain Nerve 2020;72:611-621. |
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| Snippet | 症例は73歳女性．66歳時より，1～2日で回復する一過性言語障害，右手指感覚障害の発作を数ヶ月ごとに反復するようになった．71歳，振戦と歩行障害を発症し，転倒を繰り... |
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| SubjectTerms | Y69H変異 トランスサイレチンアミロイドーシス ロゴペニック型進行性失語 転倒発作 髄膜アミロイドーシス |
| Title | 転倒発作と反復する一過性の言語障害を呈したY69H (p.Y89H)変異型遺伝性トランスサイレチン髄膜アミロイドーシスの1例 |
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