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Introduction. Hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) is a severe progressive hereditary disease. Even with the availability of genetic testing for transthyretin (TTR) gene variants, timely hATTR-PN diagnosis remains challenging due to a great variability in its clinical presentation. Patients with hATTR-PN are often misdiagnosed with chronic idiopathic axonal polyneuropathy (CIAP). The objective of our study is to describe the baseline electrophysiological, clinical, and demographic characteristics of hATTR-PN and CIAP patients and to establish patients' pre-selection criteria for genetic testing. Materials and methods. Retrospective analysis was performed in 42 hATTR-PN patients and 58 CIAP patients (according to diagnosis defined in medical records from 1 January 2017 to 1 March 2024). Demographic, clinical, and electrophysiological data were collected at diagnosis. To identify factors influencing the likelihood of the hATTR-PN presence, a logistic regression model including clinically relevant variables was developed. Results. The mean age of hATTR-PN and CIAP patients was 57.7 and 60.9 years, respectively. As compared with CIAP patients, those with hATTR-PN more frequently exhibited gait disturbances (64.3% vs 37.9%), autonomic (47.6% vs 12.1%), cardiac (35.7% vs 10.3%) and gastrointestinal symptoms (64.3% vs 12.1%), unintentional weight loss (45.2% vs 12.1%), and heart failure with preserved ejection fraction (26.2% vs 6.9%). Peripheral nerve conduction scores were also lower in the hATTR-PN group. In predicting hATTR-PN, the logistic regression model had a sensitivity of 91% and a specificity of 97%. Conclusion. Demographic, clinical, and electrophysiological characteristics of patients with hATTR-PN and CIAP were described. Based on the screening data, it is feasible to predict hATTR-PN in CIAP patients with relatively high accuracy, sensitivity, and specificity.

BACKGROUND: Differential diagnosis of chronic disorders of consciousness remains one of the most difficult problems even for experienced clinicians. AIM: To evaluate the inter-expert consistency and capacity of the researcher-developed structural scale based on magnetic resonance imaging to differentiate chronic disorders of consciousness, named, DOC-MRIDS, on a larger sample of patients. MATERIALS AND METHODS: Sixty patients with a clinically stable status diagnosed with consciousness disorders (vegetative state, n=32; minimally conscious state, n=28) were enrolled. The revised coma recovery scale (CRS-R) was included in the clinical assessment. All patients underwent structural magnetic resonance imaging with 3.0-T Siemens scanners including T2 and T1 sequences. Structural changes were assessed using the DOC-MRIDS scale and included the following features: diffuse cortical atrophy, ventricular enlargement, gyri dilatation, leukoaraiosis, brainstem and/or thalamic degeneration, corpus callosum degeneration, and focal corpus callosum lesions. A total score was calculated. Magnetic resonance imaging data were analyzed by three neuroradiologists, and inter-observer agreement (Krippendorf’s alpha) was assessed. RESULTS: A high inter-examiner agreement of the DOC-MRIDS scale score was found, with α=0.806 (95% confidence interval 0.757–0.849). The vegetative state group had a higher DOC-MRIDS score than the minimally conscious state group (p 0.005). A negative correlation was obtained between CRS-R and DOC-MRIDS scale scores (ρ=–0.457, p 0.0001), individual clinical scale domains, and magnetic resonance imaging features. CONCLUSION: When assessing structural changes in patients with chronic consciousness disorders, the use of the DOC-MRIDS scale helps differentiate the type of such disorders with sufficient specificity, sensitivity, and inter-rater agreement. This scale can be used in clinical practice as an additional differential diagnostic tool.

Neurogenic dysphagia is a disorder with impaired swallowing, which is caused by various disorders of the central and peripheral nervous systems, neuromuscular transmission, or muscles. Dysphagia is one of the most common and at the same time the most dangerous symptoms of many neurological disorders. Patients with dysphagia often have severe disability, a higher risk of aspiration pneumonia, and significantly increased mortality rate. Despite the availability of many diagnostic screening methods, clinical scales, questionnaires, and instrumental diagnostic methods, the issue of neurogenic dysphagia is underestimated, especially in the early stages. As a result, patients do not receive timely treatment and prevention of dysphagia and associated complications. Validation of available diagnostic scales, development of international protocols and standards for the diagnosis, treatment, and prevention of dysphagia and associated complications are important to establish a unified and evidence-based approach for patients with dysphagia.

Peripheral neuropathy is known to be one of the most common neurological disorders. Despite the great diagnostic value of electroneuromyography and ultrasound, addressing the diagnostics and differential diagnostics of peripheral nerve diseases of different origin could be challenging. In recent years, magnetic resonance tomography has been increasingly used for evaluating cases of suspected or established peripheral neuropathy with excellent results. This manuscript mainly deals with the advantages and limitations of the aforementioned diagnostic instruments, technical considerations according to different anatomy of peripheral nerves, along with state-of-the-art technical decisions, frequently used magnetic resonance imaging sequences and their diagnostic value based on own observation, and recommendations for contrast enhancement use and different methods of fat suppression. Currently, there is practically no standardized description of normal magnetic resonance imaging features of peripheral nerves, as well as their changes in different diseases. The evaluation of images is mainly based on the radiologist experience, which obviously decreases method’s diagnostic value. Studies of large numbers involving healthy volunteers and patients with peripheral neuropathies of different origin are required to address this issue.

Introduction. Mild cognitive impairment (MCI) negatively affects patients quality of life and is a risk factor for dementia. One of the main causes of MCI is cerebral small vessel disease (CSVD). The previously established link between decreased activity in the supplementary motor area (SMA) and cognitive impairment in patients with CSVD makes it possible to consider repetitive transcranial magnetic stimulation (rTMS) of the SMA with functional magnetic resonance imaging (fMRI)-assisted positioning as a promising method for treating MCI caused by CSVD. The aim of the study was to evaluate the efficacy and tolerability of fMRI-guided rTMS of the SMA in patients with MCI caused by CSVD. Materials and methods. Twenty patients were randomly assigned to the intervention (SMA stimulation; n = 10) and the control (vertex stimulation; n = 10) groups. All patients underwent 10 sessions of high-frequency rTMS. The MoCA scale, trail making test, Tower of London test, and copying and delayed recall in the ReyOsterrieth complex figure test were used to assess treatment effect. Testing was conducted before, immediately after and 3 months post rTMS. Results. The intervention group demonstrated a significant improvement in the MoCA, the Tower of London test and delayed recall in the ReyOsterrieth complex figure test immediately after rTMS. Statistically significant improvement in the MoCA and the Tower of London test results was maintained after 3 months. No statistically significant improvements were found in the control group. Groups were comparable in the incidence of headache during and in the 24-hour period after the stimulation session, and in unpleasant sensations during the session. Conclusion. fMRI-guided rTMS of the SMA is an effective and promising treatment method for MCI caused by CSVD, with effects lasting three or more months, and good tolerability.

Introduction. To date, patients with chronic disorders of consciousness (CDC) represent a serious problem from the medical, social, and economic points of view. Because of the relatively small incidence of this condition, accumulation of the sufficient experience in its diagnosis and treatment remains a complex task, while the lack of a unified approach among Russian specialists to classification of the CDC makes it even harder to solve. At the same time, there are widely used terms overseas that are accepted by the medical community and used in current recommendations. Aim. Specialists of the Federal State Funded Research Institution, Research Centre of Neurology, have put forward an initiative to create a Russian Working Group for Chronic Disorders of Consciousness, to discuss and approve unified Russian terminology for CDC and criteria for classifying CDC, and to then develop clinical recommendations for the diagnosis and treatment of patients with CDC. Results. The first roundtable meeting on the issues related to CDC took place at the ХI Russian Congress of Neurologists in June 2019. The attendees included staff members from the FSFRI Research Centre of Neurology, FSFRI Federal Research and Clinical Centre of Intensive Care Medicine and Rehabilitation Medicine, the Polenov Neurosurgical Institute - Branch of the FSFI Almazov National Medical Research Centre, FSFEI HE Ural State Medical University, SFI Saint PetersburgI.I.Dzhanelidze Research InstituteofEmergency Medicine, FSAEI HE Pirogov RussianNationalResearch Medical University, SFHI Research Institute of Emergency Paediatric Surgery and Traumatology of the Moscow Department of Health, and the SFHI N.I. Sklifosovsky Research Institute of Emergency Medicine of the Moscow Department of Health. Based on the results of the meeting and voting, a list of terms was composed to describe CDC and the corresponding diagnostic criteria were approved. The roundtable discussion also included the working groups future plans, and the development of a plan for Russian recommendations for the diagnosis and treatment of the CDC. Conclusion. The terms and criteria mentioned in the article are recommended for use in clinical practice and research in Russia, for patients with CDC.

Spasticity after stroke is a factor that causes disability and restricts activities of daily living, and represents a problem for both doctors and patients relatives. At the present time, the modified Ashworth scale (MAS) is a useful method of assessing increased muscle tone in patients after a cerebrovascular incident. The aim of the work is the linguistic and cultural adaptation of the MAS, with subsequent evaluation of its psychometric properties. Materials and methods. The study included 50 patients. The validation procedure consisted of linguistic and cultural adaptation and evaluation of the psychometric properties of the Russian language version of the MAS. Test-retest was used to examine reliability (calculating Spearmans rank correlation coefficient) and Cohens kappa coefficient was used to evaluate inter-rater agreement. Criterion validity was assessed by comparing the MAS results with the Spasticity Scale score of the Research Centre of Neurology. Sensitivity was measured using Wilcoxon nonparametric test, which reflects the statistical significance of intertest differences before and after rehabilitation measures. Results. Test-retest analysis showed a significant correlation (0.87) between reassessment results. Inter-rater reliability was average (0.56), which confirms the scales subjectivity and proves that patient assessment over time should be performed by the same investigator whenever possible. The correlation coefficient between the MAS and the Spasticity Scale of the Research Centre of Neurology was 0.79. Statistically significant differences were found when patients were reassessed after rehabilitation treatment (p0.0001). Conclusion. The Russian version of the MAS is a valid, reliable, and sensitive instrument, which can be recommended for use in clinical practice, both for the initial assessment of spasticity and for monitoring the effect of treatment.

The problem of chronic disorders of consciousness (DOC) remains challenging due to increasing number of these patients and limited therapeutic options. Novel diagnostic approaches provided us with valuable insights into the mechanisms of DOC, such as structural and/or functional disconnection of elements of brain networks that are essential for information processing. Depending on the modality of the study, it may be represented as low-frequency EEG patterns, global or more localized decrease of cortical metabolism on PET scanning, abnormal connectivity structural or functional MRI, or low-differentiated/disintegrated TMSEEG responses. Deeper knowledge of nature of abnormalities underlying chronic DOC may improve accuracy of diagnosis and efficacy of treatment interventions, as well as bring us somewhat closer to the understanding the phenomenon of consciousness.

Non-invasive brain stimulation belongs to most significant neurotechnologies which have arisen in the XXIth century and are characterized by universal medical importance. This group of methods comprises rhythmic transcranial magnetic stimulation (rTMS) and transcranial electric stimulation (transcranial direct current stimulation, tDCS). A spectrum of conditions for which these methods may be effective is steadily expanding and includes a variety of prevalent disorders of the modern society, such as obesity, depression, etc. The low effectiveness of lifestyle modification, as well as a wide range of pharmacological drugs side effects and high risks of surgical treatment determine the need to search for new safe methods of correction of eating behavior and obesity, a real pandemy of our society. A number of data suggest the patogenic role of changes of the frontal-striatal interactions in eating behanior disorders. Taking into account the existing models of the development of food dependence, the main approach to the use of rTMS and tDCS is stimulation of areas involved in cognitive control, such as the dorsolateral prefrontal cortex. Current data on studies of rTMS and tDCS in patients with impairment of eating behavior, as well as safety issues of using these techniques in routine clinical practice are reviewed.

Introduction. Coexistent involvement of upper and lower motor neurons is a characteristic feature of amyotrophyc lateral syndrome (ALS) necessary for the diagnosis. Diagnosis of upper motor neuron involvement in ALS is based solely on clinical features, which may not be detected at the disease onset and in rare forms manifesting clinically as the local lower motor neuron syndrome (LLMNS). The main method of assessment of the functional state of the upper motor neuron in ALS is transcranial magnetic stimulation (TMS). It allows assessing the excitability of motor cortex, corticospinal path function, and mapping of cortical representation of the muscles. In patients with ALS changes of various indicators demonstrating hyperexcitability as well as degenerative lesions of the motor cortex and the corticospinal tracts are recorded on TMS. Objective: to discuss changes in the TMS in patients with LAS, pathophysiological mechanisms of their formation and possible diagnostic value. Results. In 22 patients with LLMNS, navigation TMS revealed disturbances of intracortical suppression on paired stimulation with recording period of silence, increase of motor threshold in dominant hemisphere, decrease of the weighted square and reorganization of cortical representations of the hand muscles. Conclusion. The data obtained allow to consider navigation TMS as a promising technology for identifying upper motor neuron involvement in patients with ALS.

Despite the fact that small fiber neuropathy (SFN) has already been studied for 30 years, it remains one of the most mysterious diseases that are extremely difficult to diagnose and cure. The prevalence of SFN is 52.95 per 100,000 population; diabetes mellitus is considered to be the most frequent cause of this disease. Chronic neuropathic pain syndrome, temperature sensation abnormalities, and vegetative disorders develop as a result of damage to fine myelinated А- and unmyelinated C fibers. The disease mainly spreads in the upward direction: from feet to the proximal body parts and arms; primary axonal damage takes place. Although SFN is believed to be one of the most benign neuropathy types as it does not affect the large sensory and motor fibers, it significantly decreases patients quality of life.