前頭葉症状で初発したhereditary sensory and autonomic neuropathy 1E（HSAN1E）の1例
症例は49歳男性．5年前から人格変化，歩行障害，難聴が徐々に進行した．前頭葉徴候，吃り，垂直性眼球運動障害，筋固縮，失調，両下肢の腱反射消失と深部覚優位の感覚障害を認めた．前頭葉優位の大脳半球，小脳，中脳被蓋に萎縮が見られた．進行性核上性麻痺（progressive supranuclear palsy; PSP）を疑ったが，神経伝導検査ではSNAPが誘発不能であり，常染色体優性遺伝性ニューロパチーの家族歴が判明した．DNA methyltransferase 1（DNMT1）遺伝子のp.Y495H変異を認めhereditary sensory and autonomic neuropathy...
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| Published in | 臨床神経学 Vol. 57; no. 12; pp. 753 - 758 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経学会
2017
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-918X 1882-0654 |
| DOI | 10.5692/clinicalneurol.cn-001043 |
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| Abstract | 症例は49歳男性．5年前から人格変化，歩行障害，難聴が徐々に進行した．前頭葉徴候，吃り，垂直性眼球運動障害，筋固縮，失調，両下肢の腱反射消失と深部覚優位の感覚障害を認めた．前頭葉優位の大脳半球，小脳，中脳被蓋に萎縮が見られた．進行性核上性麻痺（progressive supranuclear palsy; PSP）を疑ったが，神経伝導検査ではSNAPが誘発不能であり，常染色体優性遺伝性ニューロパチーの家族歴が判明した．DNA methyltransferase 1（DNMT1）遺伝子のp.Y495H変異を認めhereditary sensory and autonomic neuropathy 1E（HSAN1E）と診断した．プリオン蛋白遺伝子検査ではp.M232R変異も判明した．HSAN1Eでは前頭葉症状で発症しPSP様の症状を呈する例が存在する． |
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| AbstractList | 症例は49歳男性．5年前から人格変化，歩行障害，難聴が徐々に進行した．前頭葉徴候，吃り，垂直性眼球運動障害，筋固縮，失調，両下肢の腱反射消失と深部覚優位の感覚障害を認めた．前頭葉優位の大脳半球，小脳，中脳被蓋に萎縮が見られた．進行性核上性麻痺（progressive supranuclear palsy; PSP）を疑ったが，神経伝導検査ではSNAPが誘発不能であり，常染色体優性遺伝性ニューロパチーの家族歴が判明した．DNA methyltransferase 1（DNMT1）遺伝子のp.Y495H変異を認めhereditary sensory and autonomic neuropathy 1E（HSAN1E）と診断した．プリオン蛋白遺伝子検査ではp.M232R変異も判明した．HSAN1Eでは前頭葉症状で発症しPSP様の症状を呈する例が存在する． |
| Author | 岡本, 憲省 奥田, 文悟 水田, 依久子 渡部, 真志 松本, 雄志 水野, 敏樹 |
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| References | 5) Kinariwala D, Yu J, Dhamija R. A patient with DNMT1 gene mutation presenting with polyneuropathy, hearing loss, and personality changes. JAMA Otolaryngol Head Neck Surg 2016;142:193-194. 7) Moghadam KK, Pizza F, La Morgia C, et al. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN. Brain 2014;137:1643-1655. 9) 松本雄志，奥田真也，鴨川賢二ら．遺伝性脊髄小脳変性症と鑑別を要したhereditary sensory neuropathy with dementia and hearing lossの1例．臨床神経（会） 2013;53:68. 12) Shiga Y, Satoh K, Kitamoto T, et al. Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J Neurol 2007;254:1509-1517. 8) Klein CJ, Bird T, Ertekin-Taner N, et al. DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology 2013;80:824-828. 10) Sun Z, Wu Y, Ordog T, et al. Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and antonomic neuropathy 1E. Epigenetics 2014;9:1184-1193. 1) 清水 潤．Hereditary sensory and autonomic neuropathy. Peripheral Nerve 2013;24:23-30. 4) Rotthier A, Baets J, Timmerman V, et al. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol 2012;8:73-85. 3) Baets J, Duan X, Wu Y, et al. Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain 2015;138:845-861. 6) Nishihara H, Yuan J, Omoto M, et al. Novel mutation in the methyltransferase domain of DNMT1 in a hereditary sensory and autonomic neuropathy patient with hearing loss, cataract, and dementia. Neurol Clin Neurosci 2015;3:74-77. 13) Nozaki I, Hamaguchi T, Sanjo N, et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain 2010;133:3043-3057. 2) Klein CJ, Dyck PJ. Hereditary sensory autonomic neuropathies. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. 4th ed. Philadelphia: WB Saunders; 2005. p. 1809-1844. 11) Hojo K, Kawamata T, Tanaka C, et al. Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia. Neurosci Lett 2004;367:340-343. |
| References_xml | – reference: 12) Shiga Y, Satoh K, Kitamoto T, et al. Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J Neurol 2007;254:1509-1517. – reference: 4) Rotthier A, Baets J, Timmerman V, et al. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol 2012;8:73-85. – reference: 9) 松本雄志，奥田真也，鴨川賢二ら．遺伝性脊髄小脳変性症と鑑別を要したhereditary sensory neuropathy with dementia and hearing lossの1例．臨床神経（会） 2013;53:68. – reference: 7) Moghadam KK, Pizza F, La Morgia C, et al. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN. Brain 2014;137:1643-1655. – reference: 13) Nozaki I, Hamaguchi T, Sanjo N, et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain 2010;133:3043-3057. – reference: 8) Klein CJ, Bird T, Ertekin-Taner N, et al. DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology 2013;80:824-828. – reference: 5) Kinariwala D, Yu J, Dhamija R. A patient with DNMT1 gene mutation presenting with polyneuropathy, hearing loss, and personality changes. JAMA Otolaryngol Head Neck Surg 2016;142:193-194. – reference: 3) Baets J, Duan X, Wu Y, et al. Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain 2015;138:845-861. – reference: 6) Nishihara H, Yuan J, Omoto M, et al. Novel mutation in the methyltransferase domain of DNMT1 in a hereditary sensory and autonomic neuropathy patient with hearing loss, cataract, and dementia. Neurol Clin Neurosci 2015;3:74-77. – reference: 1) 清水 潤．Hereditary sensory and autonomic neuropathy. Peripheral Nerve 2013;24:23-30. – reference: 2) Klein CJ, Dyck PJ. Hereditary sensory autonomic neuropathies. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. 4th ed. Philadelphia: WB Saunders; 2005. p. 1809-1844. – reference: 11) Hojo K, Kawamata T, Tanaka C, et al. Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia. Neurosci Lett 2004;367:340-343. – reference: 10) Sun Z, Wu Y, Ordog T, et al. Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and antonomic neuropathy 1E. Epigenetics 2014;9:1184-1193. |
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| Snippet | 症例は49歳男性．5年前から人格変化，歩行障害，難聴が徐々に進行した．前頭葉徴候，吃り，垂直性眼球運動障害，筋固縮，失調，両下肢の腱反射消失と深部覚優位の感覚障害を認めた．前頭葉優位の大脳半球，小脳，中脳被蓋に萎縮が見られた．進行性核上性麻痺（progressive supranuclear palsy;... |
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| SubjectTerms | DNMT1遺伝子 hereditary sensory and autonomic neuropathy 1E (HSAN1E) プリオン遺伝子 前頭葉機能障害 進行性核上性麻痺 |
| Title | 前頭葉症状で初発したhereditary sensory and autonomic neuropathy 1E（HSAN1E）の1例 |
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