Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0270736 (Essential tremor)
 404 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Aside from physiological tremor, essential tremor (ET) is by far the most common cause of tremor in humans, affecting large numbers of individuals in every human population. The crude prevalence of ET has been conservatively estimated to be between 0.4% and 3.9%, although some estimates of the prevalence of ET among the elderly are higher than 20%. Essential tremor is the most prevalent adult-onset movement disorder, and is also regarded as one of the most common neurological disorders of adults, with a prevalence that is similar to or greater than that of stroke, Alzheimer disease, migraine headache, and lumbosacral pain syndromes. Essential tremor is as much as 20 times more prevalent than Parkinson disease.
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PMID:A new twist for stopping the shakes? Revisiting GABAergic therapy for essential tremor. 1040 81

STUDY OBJECTIVE - Nested case-control study aimed to assess the quality of life of community dwelling participants aged 65 years or over with newly diagnosed Essential Tremor (ET). METHODS AND RESULTS - Thirty-two participants with newly diagnosed ET and 32 age and gender matched controls were administered the Rand-SF36 quality of life questionnaire. Medical co-morbidities were also assessed in the two groups. Results - Participants with ET had significantly lower scores in the physical function, role limitation because of physical function, role limitation as a result of emotional problem, pain, and energy/vitality subscales of the Rand-SF36 when compared with controls. CONCLUSIONS - Older patients with newly diagnosed ET have poorer quality of life than their community dwelling counterparts without ET.
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PMID:Quality of life in a random sample of community dwelling older patients with essential tremor. 1788 23

Familial episodic pain is a rare autosomal-dominant disorder characterized by recurrent attacks of pain. The pathogenesis of familial episodic pain is not very clear so far. Essential tremor is the most common movement disorder, but the identification of essential tremor genes has remained elusive. We studied a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor. All essential tremor diagnoses were confirmed based on a review of the questionnaires, videotaped neurological examinations and was then reconfirmed by a senior neurologist specializing in movement disorders using published criteria. SCN11A analysis was performed by whole-exome sequencing or Sanger sequencing. We confirmed the presence of the SCN11A (c.673C>T) mutation in family members with episodic pain and essential tremor. We identified a missense mutation of p.Arg225Cys in SCN11A in a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor syndrome. This may belong to a rare hereditary syndrome that has not been reported up to now. For the first time, we associated the genetic variability of SCN11A with the development of essential tremor, and further confirmed essential tremor is one of the neurological channelopathies.
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PMID:Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor. 2829 26