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- Ⓜ Content Spotlight: Clinically isolated syndrome – https://t.co/taD7JN08xf ->
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A clinically isolated syndrome is a first symptomatic episode of central nervous system dysfunction due to inflammatory demyelination. Risk factors for conversion to clinically definite multiple sclerosis have been identified, and treatment of high-risk individuals may delay subsequent relapses. Individuals with a clinically isolated syndrome may demonstrate accelerated brain atrophy and mild cognitive impairments. Revisions to the diagnostic criteria for relapsing-remitting multiple sclerosis are associated with a reduction in time to diagnosis of clinically definite multiple sclerosis in some clinically isolated syndrome patients.
In this article, Dr. Elizabeth Hartman of CNOS in Dakota Dunes, South Dakota summarizes the diagnosis, evaluation, and prognostic implications of clinically isolated syndromes.
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- Pigs help scientists understand human brain
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In this article, Dr. Pasquale Striano of the University of Genova, Istituto Gaslini discusses benign adult familial myoclonic epilepsy, which is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks, and rare convulsive seizures. In most affected individuals, the disease takes a benign course; however, at advanced age, worsening of the tremor and myoclonus is common, and slight intellectual disability is present in a subset of patients. Prevalence is unknown but is estimated to be less than 1 out of 35,000. It is transmitted autosomal dominantly, and penetrance is high.
This is a well-delineated disease with remarkable features that clearly distinguish it from other forms of myoclonic epilepsies. Genetic studies of the families show heterogeneity, and different susceptible chromosomal loci have been identified. Diagnosis is based on clinical and electrophysiological findings. It must be differentiated from epilepsy syndromes with prominent myoclonus features. Valproate, levetiracetam, and benzodiazepines are the most beneficial treatments.
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