KEGG   DISEASE: Essential tremorHelp
Entry
H01577                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01577  Essential tremor
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A04  Disorders associated with tremor
    H01577  Essential tremor
BRITE hierarchy
Gene
FUS [HSA:2521] [KO:K13098]
TENM4 [HSA:26011]
Drug
Propranolol hydrochloride [DR:D00483]
Other DBs
ICD-11: 8A04.1
ICD-10: G25.0
MeSH: D020329
OMIM: 614782 616736
Reference
  Authors
Louis ED
  Title
Clinical practice. Essential tremor.
  Journal
N Engl J Med 345:887-91 (2001)
DOI:10.1056/NEJMcp010928
Reference
  Authors
Deng H, Le W, Jankovic J
  Title
Genetics of essential tremor.
  Journal
Brain 130:1456-64 (2007)
DOI:10.1093/brain/awm018
Reference
  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
Reference
  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

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