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)

The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.
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PMID:Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. 1749 8

Parkinsonism is manifested as bradykinesia; tremor with signs and symptoms suggesting Parkinson's disease. The most common cause of Parkinsonism is Idiopathic Parkinson's disease; however, there are other multiple pathologies and situation that have top be considered accordingly in this clinical setting. Since the treatment and outcomes varies widely between these conditions is of paramount importance to work up the Parkinsonism and try to achieve an accurate diagnosis. This review gives a general landscape of Parkinsonism and its most likely differentials.
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PMID:[Parkinsonism: alternative diagnosis beyond idiopathic Parkinson's disease]. 2119

Parkinson's disease (PD) can present with a variety of motor disorders that fluctuate throughout the day, making assessment a challenging task. Paper-based measurement tools can be burdensome to the patient and clinician and lack the temporal resolution needed to accurately and objectively track changes in motor symptom severity throughout the day. Wearable sensor-based systems that continuously monitor PD motor disorders may help to solve this problem, although critical shortcomings persist in identifying multiple disorders at high temporal resolution during unconstrained activity. The purpose of this study was to advance the current state of the art by (1) introducing hybrid sensor technology to concurrently acquire surface electromyographic (sEMG) and accelerometer data during unconstrained activity and (2) analyzing the data using dynamic neural network algorithms to capture the evolving temporal characteristics of the sensor data and improve motor disorder recognition of tremor and dyskinesia. Algorithms were trained (n=11 patients) and tested (n=8 patients; n=4 controls) to recognize tremor and dyskinesia at 1-second resolution based on sensor data features and expert annotation of video recording during 4-hour monitoring periods of unconstrained daily activity. The algorithms were able to make accurate distinctions between tremor, dyskinesia, and normal movement despite the presence of diverse voluntary activity. Motor disorder severity classifications averaged 94.9% sensitivity and 97.1% specificity based on 1 sensor per symptomatic limb. These initial findings indicate that new sensor technology and software algorithms can be effective in enhancing wearable sensor-based system performance for monitoring PD motor disorders during unconstrained activities.
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PMID:High-resolution tracking of motor disorders in Parkinson's disease during unconstrained activity. 2386 61

Repeat-associated non-ATG (RAN) translation is emerging as a driver of pathogenesis in microsatellite expansion disorders. Green and colleagues recently identified several candidate RAN translation inhibitors from a high-throughput small-molecule screen for fragile X tremor ataxia syndrome. Their study establishes a path forward for identifying inhibitors of RAN translation for multiple disorders.
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PMID:Drug Screen Tugs at Common Thread for Repeat Disorders. 3164 34