| H00998 | |
| H番号 | H00998 |
| 名称 | 小児交互性片麻痺 |
| 概要 | Alternating hemiplegia of childhood (AHC) is a rare disorder with onset before 18 months of age. The earliest manifestations of AHC are recurrent bilateral attacks of hemiplegia lasting minutes to days, abnormal ocular movements, and autonomic disturbances. A characteristic feature of AHC is the disappearance of all abnormalities when the child falls asleep. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (AHC1) ATP1A2 [HSA:477] [KO:K01539] (AHC2) ATP1A3 [HSA:478] [KO:K01539] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Hemiplegic migraine (H00775) and alternating hemiplegia of childhood (AHC) share some clinical features. |
| リンク | ICD-11: MB53.0 ICD-10: G98 MeSH: C536589 OMIM: 104290 614820 |
| 文献 | PMID:8496742 著者 Bourgeois M, Aicardi J, Goutieres F タイトル Alternating hemiplegia of childhood. 雑誌 J Pediatr 122:673-9 (1993) DOI:10.1016/S0022-3476(06)80003-X PMID:17880649 著者 Neville BG, Ninan M タイトル The treatment and management of alternating hemiplegia of childhood. 雑誌 Dev Med Child Neurol 49:777-80 (2007) DOI:10.1111/j.1469-8749.2007.00777.x PMID:15286158 著者 Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G タイトル A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. 雑誌 J Med Genet 41:621-8 (2004) DOI:10.1136/jmg.2003.017863 PMID:14667076 著者 Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S タイトル Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. 雑誌 Dev Med Child Neurol 45:833-6 (2003) DOI:10.1111/j.1469-8749.2003.tb00899.x PMID:18498393 著者 de Vries B, Stam AH, Beker F, van den Maagdenberg AM, Vanmolkot KR, Laan L, Ginjaar IB, Frants RR, Lauffer H, Haan J, Haas JP, Terwindt GM, Ferrari MD タイトル CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 雑誌 Cephalalgia 28:887-91 (2008) DOI:10.1111/j.1468-2982.2008.01596.x PMID:22850527 著者 Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmuller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nurnberg P, Brockmann K, Gartner J タイトル Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 雑誌 Lancet Neurol 11:764-73 (2012) DOI:10.1016/S1474-4422(12)70182-5 |