Although multiple clinical trials of various therapeutic interventions in amyotrophic lateral sclerosis (ALS) have been conducted so far, most of them lack comprehensive study design due to the ...absence of progression biomarkers that could provide adequate understanding of the rate and pattern of disease progression. Motor unit number estimation (MUNE) methods, motor unit number index (MUNIX) in particular, could be a promising tool for evaluating progression in ALS. This paper provides an extensive review of the main aspects of current MUNIX methodology and its emerging modifications, correlations with clinical and electrodiagnostic measures, reproducibility issues, utility in motor neuron disease diagnostics, and assessment of disease progression in clinical trials.
Both non-epileptic sleep disturbances and epilepsy are common in patients with mucopolysaccharidoses (MPS), so diagnosis of sleep-related hypermotor epilepsy in these patients is a tackling issue. We ...present a case of an adult patient with MPS IIIB (Sanfilippo syndrome), who presented with numerous nocturnal events of sudden awakening and hypermotor behavior, which had been previously regarded as parasomnias. Overnight video-EEG captured numerous stereotypical seizures with ictal pattern in the frontal regions, which led the diagnosis of SHE. The patient was started with carbamazepine, which resulted in a substantial reduction in the number of seizures. Our report provides further support for use of overnight video-EEG in the differential diagnosis of sleep-related disorders in MPS, yet true incidence of SHE in MPS patients remains unknown.
Electrophysiological assessment of the cranial reflexes Seliverstov, Yury A.; Abramova, Anna A.; Evdokimov, Konstantin M. ...
Annaly kliničeskoj i èksperimentalʹnoj nevrologii (Online),
12/2021, Letnik:
15, Številka:
4
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Electrophysiological assessment methods play a key role in the diagnosis of various neurological disorders. Electrophysiological evaluation of cranial reflexes is particularly valuable for ...neurologists. This article provides an overview of electrophysiological evaluation methods for cranial reflexes, which are most commonly used in clinical practice. They provide objective assessment of the functional integrity of nervous system structures that make up the cranial reflex arc, identify the level and, in some cases, the nature of disease, as well as pathophysiological mechanisms of central and peripheral nervous system disorders. We describe the instruments and main approaches to analysing the results for the standard blink reflex, blink reflex with prepulse inhibition, blink reflex with paired stimuli and recovery curve evaluation, reflex inhibition of the levator palpebrae superioris, jaw jerk reflex, and reflex inhibition (cutaneous silent period) of the masseter muscle.
Pharmacogenomics aims to optimize drug therapy with respect to genetic variations in various human genes, whose products affect drug pharmacokinetics and pharmacodynamics. Among neurological ...diseases, selecting effective drug therapy is especially important in epilepsy since recurrent epileptic seizures can lead to persistent epileptic brain activity and patient traumatization. Lamotrigine is a new generation broad-spectrum antiepileptic drug and is recommended as the drug of choice in focal and generalized epilepsy. By genotyping single-nucleotide polymorphisms (SNPs) associated with decreased or increased lamotrigine blood concentration, predicting the drug dose that will achieve the therapeutic serum concentration is possible. Selecting an appropriate individual drug dose avoids the development of dose-dependent side effects, which occur when the serum drug concentration is exceeded and drug discontinuation due to a lack of the expected effect because of insufficient blood levels. This review presents the results of studies of the polymorphism in genes that directly or indirectly alter lamotrigine serum levels. These include genes that encode the UGT enzymes, responsible for the conjugation and elimination of lamotrigine from the body; genes that encode transport proteins (P-glycoprotein, organic cation transporter, multidrug resistance protein, and breast cancer resistance protein); genes that encode the transcription factors HNF4 and pregnane X receptor, which regulate the expression of several liver transport proteins and enzymes. The reviewed data demonstrate the relationship between polymorphisms in these genes and changes in lamotrigine concentration.
Epilepsy and sleep Amayak G. Broutian; Alexandra I. Belyakova-Bodina
Annaly kliničeskoj i èksperimentalʹnoj nevrologii (Online),
12/2018, Letnik:
12, Številka:
5S
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This review focuses on the interrelation between clinical and electrophysiological manifestations of various epilepsy forms and level of wakefulness or sleep. In case of some epileptic syndromes ...seizures occur predominantly or solely in sleep. Epilepsy can modify normal sleep patterns; on the other hand, sleep influences interictal epileptiform discharges, increasing their number and changing their morphology and spreading depending on sleep stage. Although interictal discharges in focal epilepsy are more common in sleep than in wakefulness, discharge distribution in generalized epilepsy is more variable. For some epileptic syndromes there is a strong correlation between time of onset, frequency, severity of attacks and stage of sleep cycle or wakefulness. Further research in this area can shed light not only on mechanisms of epileptic networks functioning, but also on the sleep-wake cycle regulatory systems.
Both non-epileptic sleep disturbances and epilepsy are common in patients with mucopolysaccharidoses (MPS), so diagnosis of sleep-related hypermotor epilepsy in these patients is a tackling issue. We ...present a case of an adult patient with MPS IIIB (Sanfilippo syndrome), who presented with numerous nocturnal events of sudden awakening and hypermotor behavior, which had been previously regarded as parasomnias. Overnight video-EEG captured numerous stereotypical seizures with ictal pattern in the frontal regions, which led the diagnosis of SHE. The patient was started with carbamazepine, which resulted in a substantial reduction in the number of seizures. Our report provides further support for use of overnight video-EEG in the differential diagnosis of sleep-related disorders in MPS, yet true incidence of SHE in MPS patients remains unknown.
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