思春期以降もてんかん発作と発作性運動誘発性舞踏アテトーゼが併存したPRRT2（proline-rich transmembrane protein 2）遺伝子変異の1例
症例は21歳右利き女性．てんかん家族歴はない．14歳頃から全身けいれん発作を月1回の頻度で認めていた．クロナゼパム，レベチラセタムの加療では改善しなかった．病歴再聴取にて急な動きに誘発される不随意運動が明らかとなり，発作性運動誘発性舞踏アテトーゼ（paroxysmal kinesigenic choreoathetosis; PKC）の責任遺伝子（proline-rich transmembrane protein 2; PRRT2）に変異を認めた．カルバマゼピン少量投与にてけいれん発作およびPKCは完全に消失した．本例ではPRRT2関連疾患として思春期以降もPKCとけいれん発作が併存したがP...
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| Published in | 臨床神経学 Vol. 59; no. 3; pp. 144 - 148 |
|---|---|
| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経学会
2019
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-918X 1882-0654 |
| DOI | 10.5692/clinicalneurol.cn-001228 |
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| Abstract | 症例は21歳右利き女性．てんかん家族歴はない．14歳頃から全身けいれん発作を月1回の頻度で認めていた．クロナゼパム，レベチラセタムの加療では改善しなかった．病歴再聴取にて急な動きに誘発される不随意運動が明らかとなり，発作性運動誘発性舞踏アテトーゼ（paroxysmal kinesigenic choreoathetosis; PKC）の責任遺伝子（proline-rich transmembrane protein 2; PRRT2）に変異を認めた．カルバマゼピン少量投与にてけいれん発作およびPKCは完全に消失した．本例ではPRRT2関連疾患として思春期以降もPKCとけいれん発作が併存したがPKCの症状が病的と自覚されていなかった．PRRT2関連疾患のけいれん発作はカルバマゼピンが著効することがあり詳細な病歴聴取が重要である． |
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| AbstractList | 症例は21歳右利き女性．てんかん家族歴はない．14歳頃から全身けいれん発作を月1回の頻度で認めていた．クロナゼパム，レベチラセタムの加療では改善しなかった．病歴再聴取にて急な動きに誘発される不随意運動が明らかとなり，発作性運動誘発性舞踏アテトーゼ（paroxysmal kinesigenic choreoathetosis; PKC）の責任遺伝子（proline-rich transmembrane protein 2; PRRT2）に変異を認めた．カルバマゼピン少量投与にてけいれん発作およびPKCは完全に消失した．本例ではPRRT2関連疾患として思春期以降もPKCとけいれん発作が併存したがPKCの症状が病的と自覚されていなかった．PRRT2関連疾患のけいれん発作はカルバマゼピンが著効することがあり詳細な病歴聴取が重要である． |
| Author | 加藤, 竹雄 粟屋, 智就 平, 拓実 池田, 昭夫 井上, 岳司 髙橋, 良輔 田邉, 康人 下竹, 昭寛 葛谷, 聡 |
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| References | 2) Ebrahimi-Fakhari D, Saffari A, Westenberger A, et al. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 2015;138:3476-3495. 10) Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet 2013;50:133-139. 12) Liu XR, Wu M, He N, et al. Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes Brain Behav 2013;12:234-240. 20) Wu L, Tang HD, Huang XJ, et al. PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in paroxysmal kinesigenic dyskinesia. Parkinsonism Relat Disord 2014;20:1399-1404. 5) 加藤竹雄，栗屋智就．発作性運動誘発性舞踏アテトーゼ．Epilepsy 2015;9:29-33. 9) van Vliet R, Breedveld G, de Rijk-van Andel J, et al. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 2012;79:777-784. 6) Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-1255. 4) Kato N, Sadamatsu M, Kikuchi T, et al. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res 2006;70 Suppl 1:S174-184. 13) Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90:152-160. 17) Guerrero-Lopez R, Ortega-Moreno L, Giraldez BG, et al. Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene. Epilepsy Res 2014;108:1274-1278. 19) Lee HY, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012;1:2-12. 16) Marini C, Conti V, Mei D, et al. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology 2012;79:2109-2114. 18) 松下浩子，岡野創造，石井敦士ら．PRRT2遺伝子異常があり乳幼児期に多彩なてんかん発作を認めた1女児例．脳と発達 2016;48:31-34. 8) Watanabe K, Okumura A. Benign partial epilepsies in infancy. Brain Dev 2000;22:296-300. 15) Djemie T, Weckhuysen S, Holmgren P, et al. PRRT2 mutations: exploring the phenotypical boundaries. J Neurol Neurosurg Psychiatry 2014;85:462-465. 11) Lee YC, Lee MJ, Yu HY, et al. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. PLoS One 2012;7:e38543. 1) Valtorta F, Benfenati F, Zara F, et al. PRRT2: from Paroxysmal disorders to regulation of synaptic function. Trends Neurosci 2016;39:668-679. 21) Yin XM, Lin JH, Cao L, et al. Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. Hum Mol Genet 2018;27:625-637. 3) Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004;63:2280-2287. 7) Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134:3493-3501. 14) Ono S, Yoshiura K, Kinoshita A, et al. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 2012;57:338-341. |
| References_xml | – reference: 15) Djemie T, Weckhuysen S, Holmgren P, et al. PRRT2 mutations: exploring the phenotypical boundaries. J Neurol Neurosurg Psychiatry 2014;85:462-465. – reference: 10) Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet 2013;50:133-139. – reference: 13) Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90:152-160. – reference: 20) Wu L, Tang HD, Huang XJ, et al. PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in paroxysmal kinesigenic dyskinesia. Parkinsonism Relat Disord 2014;20:1399-1404. – reference: 4) Kato N, Sadamatsu M, Kikuchi T, et al. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res 2006;70 Suppl 1:S174-184. – reference: 21) Yin XM, Lin JH, Cao L, et al. Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. Hum Mol Genet 2018;27:625-637. – reference: 3) Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004;63:2280-2287. – reference: 14) Ono S, Yoshiura K, Kinoshita A, et al. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 2012;57:338-341. – reference: 17) Guerrero-Lopez R, Ortega-Moreno L, Giraldez BG, et al. Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene. Epilepsy Res 2014;108:1274-1278. – reference: 16) Marini C, Conti V, Mei D, et al. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology 2012;79:2109-2114. – reference: 8) Watanabe K, Okumura A. Benign partial epilepsies in infancy. Brain Dev 2000;22:296-300. – reference: 9) van Vliet R, Breedveld G, de Rijk-van Andel J, et al. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 2012;79:777-784. – reference: 6) Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-1255. – reference: 1) Valtorta F, Benfenati F, Zara F, et al. PRRT2: from Paroxysmal disorders to regulation of synaptic function. Trends Neurosci 2016;39:668-679. – reference: 12) Liu XR, Wu M, He N, et al. Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes Brain Behav 2013;12:234-240. – reference: 18) 松下浩子，岡野創造，石井敦士ら．PRRT2遺伝子異常があり乳幼児期に多彩なてんかん発作を認めた1女児例．脳と発達 2016;48:31-34. – reference: 19) Lee HY, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012;1:2-12. – reference: 2) Ebrahimi-Fakhari D, Saffari A, Westenberger A, et al. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 2015;138:3476-3495. – reference: 7) Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134:3493-3501. – reference: 5) 加藤竹雄，栗屋智就．発作性運動誘発性舞踏アテトーゼ．Epilepsy 2015;9:29-33. – reference: 11) Lee YC, Lee MJ, Yu HY, et al. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. PLoS One 2012;7:e38543. |
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| SubjectTerms | proline-rich transmembrane protein 2 (PRRT2)遺伝子 てんかん 全身強直性間代発作 発作性運動誘発性舞踏アテトーゼ |
| Title | 思春期以降もてんかん発作と発作性運動誘発性舞踏アテトーゼが併存したPRRT2（proline-rich transmembrane protein 2）遺伝子変異の1例 |
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