Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects. Most symptoms improved with carbamazepine, consistent with an underlying cation channelopathy. We identified a variant in the transient receptor potential ankyrin A1 channel (TRPA1) gene that selectively cosegregated with CFS and the other hypersensitivity-hyperexcitability symptoms. This variant (c.2755C>T) resulted in a premature stop codon at amino acid 919 (p.Arg919*) in the outer pore of the channel. TRPA1 is a widely distributed, promiscuous plasmalemmal cation channel that is strongly implicated in the pathophysiology of the specific hypersensitivity-hyperexcitability symptoms observed in these subjects. Thus, we have identified a novel TRPA1 variant that is associated with CFS as part of a generalized hypersensitivity-hyperexcitability disorder. These findings clarify the diverse functional roles of TRPA1, and underscore the importance of this channel as a potential therapeutic target.
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PMID:A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome. 2843 34

Involuntary muscle activities like fasciculations or tremor are an indication for several neurological disorders. However, currently used techniques for measuring those activities are limited due to their invasiveness, the unsuitability for measuring a whole body simultaneously and the lack of an objective measurement of amplitude and duration of muscle activity. Hence, we developed a new laser-based sensor for the remote quantification of muscle activity. In the present paper we show a basic evaluation of our system by reference to ultrasound measurements. Our results show the detection limits of our remote sensor technology in terms of fasciculation size and depth within the muscle. Those results will help us for a better interpretation of our measurement results and hold promise for the future development of our system.
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PMID:Evaluation of a laser-based sensor for the diagnosis of neurological disorders. 2906 Aug 31


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