| H01577 | |
| H number | H01577 |
| Name | Essential tremor |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (ETM1) DRD3 [HSA:1814] [KO:K04146] (ETM4) FUS [HSA:2521] [KO:K13098] (ETM5) TENM4 [HSA:26011] [KO:K24473] (ETM6) NOTCH2NLC [HSA:100996717] [KO:K24466] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Propranolol hydrochloride [DR:D00483] |
| Comment | - |
| Other DBs | ICD-11: 8A04.1 ICD-10: G25.0 MeSH: D020329 OMIM: 190300 614782 616736 618866 |
| Reference | PMID:11565522 AUTHORS Louis ED TITLE Clinical practice. Essential tremor. JOURNAL N Engl J Med 345:887-91 (2001) DOI:10.1056/NEJMcp010928 PMID:17353225 AUTHORS Deng H, Le W, Jankovic J TITLE Genetics of essential tremor. JOURNAL Brain 130:1456-64 (2007) DOI:10.1093/brain/awm018 PMID:16650084 (ETM1) AUTHORS Lucotte G, Lagarde JP, Funalot B, Sokoloff P TITLE Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families. JOURNAL Clin Genet 69:437-40 (2006) DOI:10.1111/j.1399-0004.2006.00600.x PMID:22863194 (ETM4) AUTHORS 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 TITLE Exome sequencing identifies FUS mutations as a cause of essential tremor. JOURNAL Am J Hum Genet 91:313-9 (2012) DOI:10.1016/j.ajhg.2012.07.002 PMID:26188006 (ETM5) AUTHORS 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 TITLE Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. JOURNAL Hum Mol Genet 24:5677-86 (2015) DOI:10.1093/hmg/ddv281 PMID:32516806 (ETM6) AUTHORS Yau WY, O'Connor E, Chen Z, Vandrovcova J, Wood NW, Houlden H TITLE GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor. JOURNAL Brain 143:e57 (2020) DOI:10.1093/brain/awaa144 |