H01577 | |
H番号 | H01577 |
名称 | 本態性振戦 |
概要 | Essential tremor (ET) is a neurological disorder that is considered to be one of the most common adult-onset movement disorders. ET is typically characterized by rhythmic, involuntary shaking of one or more parts of the body, and occurs exclusively during voluntary movements (action tremor) or in positions against gravity (postural tremor). The phenotypic severity of ET is variable, as evidenced by the existence of both highly disabling and milder forms of the disease. There are three subtypes of ET, namely hereditary, sporadic, and senile, and most studies indicate that ET is a hereditary disorder in more than half of affected individuals (and presumably has autosomal-dominant inheritance). The diagnostic approach includes obtaining a history, physical examination, and laboratory tests. At present, there are no validated serologic, radiologic, or pathological markers. |
カテゴリ | 神経系疾患 |
ネットワーク | - |
病因遺伝子 | (ETM1) DRD3 [HSA:1814] [KO:K04146] (ETM4) FUS [HSA:2521] [KO:K13098] (ETM5) TENM4 [HSA:26011] [KO:K24473] (ETM6) NOTCH2NLC [HSA:100996717] [KO:K24466] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | アロチノロール塩酸塩 [DR:D01830] |
コメント | - |
リンク | ICD-11: 8A04.1 ICD-10: G25.0 MeSH: D020329 OMIM: 190300 614782 616736 618866 |
文献 | PMID:11565522 著者 Louis ED タイトル Clinical practice. Essential tremor. 雑誌 N Engl J Med 345:887-91 (2001) DOI:10.1056/NEJMcp010928 PMID:17353225 著者 Deng H, Le W, Jankovic J タイトル Genetics of essential tremor. 雑誌 Brain 130:1456-64 (2007) DOI:10.1093/brain/awm018 PMID:16650084 (ETM1) 著者 Lucotte G, Lagarde JP, Funalot B, Sokoloff P タイトル Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families. 雑誌 Clin Genet 69:437-40 (2006) DOI:10.1111/j.1399-0004.2006.00600.x PMID:22863194 (ETM4) 著者 Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Riviere JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupre N, Bernard G, Chouinard S, Dion PA, Rouleau GA タイトル Exome sequencing identifies FUS mutations as a cause of essential tremor. 雑誌 Am J Hum Genet 91:313-9 (2012) DOI:10.1016/j.ajhg.2012.07.002 PMID:26188006 (ETM5) 著者 Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jimenez-Jimenez FJ, Gironell A, Clarimon J, Drechsel O, Agundez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleo A, Coria F, Garcia-Martin E, Alonso-Navarro H, Marti MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X タイトル Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. 雑誌 Hum Mol Genet 24:5677-86 (2015) DOI:10.1093/hmg/ddv281 PMID:32516806 (ETM6) 著者 Yau WY, O'Connor E, Chen Z, Vandrovcova J, Wood NW, Houlden H タイトル GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor. 雑誌 Brain 143:e57 (2020) DOI:10.1093/brain/awaa144 |