Annals of Clinical and Experimental Neurology
Peer-review quarterly medical journal.
Editor-in-Chief
- Prof. Michael Piradov
ORCID: 0000-0002-6338-0392
Founders
Publisher
About
The journal “Annals of Clinical and Experimental Neurology” is a peer-review medical journal, which provides articles for practicing neurologists, neurosurgeons, cardiologists, critical care and neurorehabilitation professionals, neuropsychologists, neuroradiologists, clinical neurophysiologists, as well as neuroscience professionals.
The journal publishes original articles, scientific reviews on all problems of central and peripheral nervous system diseases, fundamental neurosciences, and also on problems adjacent to other medical specialties. In addition, the journal accepts technology reviews in neurology and neurosciences, clinical studies and essays on the history of neuroscience and neuroscience.
The journal’s unique mission is to cover current problems and modern achievements in the field of neurology, neurosurgery, critical care, neurorehabilitation, neuroimaging, cardioneurology, clinical neurophysiology, fundamental neuroscience as well as to contribute to the formation of new promising research and training of highly qualified personnel in these areas.
Journal’s main tasks are:
- Reflection of the results of scientific research in the most significant areas of neurology and related neuroscience
- Regular informing of the medical community about the latest achievements and prospects for the development of domestic and foreign medical science in the field of neurology
- Promoting the widespread introduction into practice of the latest achievements of neuroscience
- Creation of a platform for an exchange of views on the most significant problems of clinical and fundamental neuroscience, professional development and knowledge level of specialists
APC, Publication & Distribution
- Quarterly issues (4 times a year)
- Platinum Open Access (no APC)
- Creative Commons Attribution 4.0 International (CC BY 4.0) License.
Indexation
- Scopus
- Russian Science Citation Index (on WoS)
- CrossRef
- DOAJ (Directory of Open Access Journals)
- Google Scholar
- Ulrich’s International Periodicals Directory
Current Issue
Vol 18, No 4 (2024)
- Year: 2024
- Published: 03.01.2025
- Articles: 12
- URL: https://annaly-nevrologii.com/journal/pathID/issue/view/84
Full Issue
Original articles
Accelerometry in Diagnosis of Functional Tremor
Abstract
Introduction. Functional tremor (FT) is the most common phenotype of functional movement disorders. Electrophysiological assessment is included in the diagnostic criteria for tremor; however, there is currently no consensus criteria for the differential diagnosis of FT.
The objective of this study was to evaluate the utility of tremor frequency characteristics derived from accelerometry for the differential diagnosis between FT and organic tremor (OT).
Materials and methods. Nineteen patients with FT, 20 patients with essential tremor, and 20 patients with Parkinson's disease were enrolled in the study and underwent electrophysiological examination with a two-channel accelerometer and subsequent data processing.
Results. The study results revealed the differences in the frequency peak widths in patients with FT and OT, predominantly while performing a cognitive load task. This criterion showed a high sensitivity (100%) and a high specificity (97.5%) for the diagnosis of FT in the study population.
Conclusion. Tremor characteristics recorded during accelerometry combined with cognitive load task can serve as an additional testing aid for differential diagnosis between functional and organic tremor.
Characteristics of Patients with Hereditary Transthyretin Amyloid Polyneuropathy and Chronic Idiopathic Axonal Polyneuropathy in Russia: PRIMER Study Results
Abstract
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.
Serum Cholinesterase Activity in Elderly Female Patients with Different Screening Cognitive Status and Frailty Assessment Scores
Abstract
Introduction. Frailty and mild cognitive impairment (MCI) are common geriatric syndromes. Peripheral serum cholinesterase (pChE) is a laboratory indicator that may reflect dysfunction of cholinergic processes in the central nervous system. Published data demonstrate the potential utility of pChE as a marker for a range of neurodegenerative disorders.
Aim. This study aimed to identify and investigate the relationship between serum pChE levels in patients and various screening scores of cognitive status, frailty, and metabolic parameters.
Materials and methods. The study included 50 women aged over 60 years. Screening clinical examinations were conducted, including Montreal Cognitive Assessment (MoCA), Mini-Mental State Examination (MMSE), Frontal Assessment Battery (FAB), Age Is Not a Hindrance questionnaire, and Charlson Comorbidity Index. A blood chemistry analysis was performed, including a kinetic colorimetric assay of serum pChE.
Results. The Age Is Not a Hindrance score and pChE activity exhibited a moderate inverse correlation with a Spearman coefficient (rS) of –0.31; 95% confidence interval (CI) –0.5 to –0.03; p < 0.05. The MoCA scores and pChE levels also showed a moderate inverse correlation with rS of –0.32; 95% CI: –0.55 to –0.05, p < 0.05. A high risk of MCI is defined by a pChE activity threshold point of 9978 U/L, with a sensitivity of 47% and a specificity of 97%. The association between pChE activity and the prevalence of cognitive impairment remained significant even when different socio-demographic and metabolic parameters were included in the regression model, odds ratio (OR) 1.0005; 95% CI: 1.0001–1.009; p = 0.01).
Conclusion. Women over 60 years of age in an outpatient setting exhibited an inverse correlation between the Age Is Not a Hindrance questionnaire score and the pChE activity. A pChE activity of 9978 U/L or higher was associated with an elevated risk of concomitant mild cognitive impairment. However, it is important to consider the high probability of false negatives in this context. This association persisted across a variety of clinical and metabolic factors.
Mini Balance Evaluation Systems Test (Mini-BESTest): Cultural and Linguistic Adaptation in Russia
Abstract
Introduction. In clinical practice, a comprehensive assessment of the systems responsible for balance is important both for correct diagnosis and the right choice of therapy. To provide accurate assessment of all the systems involved in balance control, in 2009, F.B. Horak et al. from the Oregon Health and Sciences University developed a universal Balance Evaluation Systems Test (BESTest) consisting of 36 tasks. Subsequently, the authors improved this method by selecting 14 tasks that evenly belonged to four of the six sections of the original BESTest, which collectively constituted the Mini-BESTest. The Mini-BESTest is a unique brief assessment tool that is actively used worldwide for the diagnostics and dynamic evaluation of balance in various nervous system disorders. However, the absence of a validated Russian version makes it challenging to use this test in Russia.
The objective of the study is to develop an official Russian version (cultural and linguistic adaptation) of the Mini-BESTest to consider the target language and culture (1st stage of the linguistic validation study).
Materials and methods. The author of the test, F.B. Horak, granted her consent for the linguistic validation of Mini-BESTest in Russia. Forward and backward translations of the test and its materials, pilot testing (cognitive debriefing), and development of the Russian version were carried out with the participation of a linguistic philologist and neurologists specializing in working with patients with balance disorders in various neurological diseases.
Results. Based on the results of the expert committee meeting, a cultural and linguistic adaptation of the test was carried out and the final Russian version presented in this article was approved.
Conclusion. The first developed Russian version of Mini-BESTest is officially presented and recommended for use both in clinical and research practice in Russia and other Russian-speaking countries. The psychometric properties (reproducibility, inter-rater reliability, and sensitivity of the test) of the Russian version are currently being assessed.
Transcranial Direct Current Stimulation for Improvement of Neurotransplantation Outcomes in Rats with 6-Hydroxydopamine-Induced Parkinsonism
Abstract
Introduction. With the number of patients with Parkinson's disease steadily growing, the need for novel treatment approaches is increasing. Combining transplantation of neuronal progenitors derived from induced pluripotent stem cells and transcranial direct current stimulation (tDCS) is among the promising methods.
Aim: to examine the effect of tDCS on the cell graft condition and motor symptoms of Parkinson's syndrome in rats.
Materials and methods. Parkinson's syndrome was modeled in Wistar rats by the unilateral intranigral injection of 6-hydroxydopamine (6-OHDA; 12 μg in 3 μL) The model rats underwent neurotransplantation (3 × 105 cells in 10 μL) into the caudate nuclei on the affected side. The animals underwent tDCS for 14 days. Behavioral changes were analyzed by open field and beam-walking tests. Development and morphological characteristics of the graft were assessed by the morphochemical study.
Results. Neurotransplantation had no significant effect on the behavior of rats with parkinsonism; however, combined with tDCS, it increased motor activity during the open field tests compared with the group of model rats (р = 0.0014) and mitigated their anxiety-related behaviors (р = 0.048) in tests at 3 weeks after the transplantation. These effects were not observed in tests at 3 months. The morphochemical study revealed larger graft sizes in the animals that underwent tDCS compared with the controls and cell shift to the marginal zone of the graft. Stimulation was also shown to induce division of a part of cells at early stages of differentiation and promote active synaptogenesis.
Conclusion. Combining neurotransplantation and tDCS in the 6-OHDA-induced model of parkinsonism demonstrated its potential to manage both motor and non-motor symptoms. Optimizing protocols of transplantation and tDCS and evaluating their long-term efficacy and safety are required to successfully implement this method into clinical practice.
Reviews
A Genetic Perspective on Ischemic Stroke: Recent Advances and Future Directions
Abstract
Objective. This narrative review aimed to explore the multifaceted nature of ischemic stroke (IS) and its underlying genetic factors, emphasize the role of genetics in early detection and prevention, and acknowledge the complex influences on stroke prevalence across various countries.
Methods. An extensive overview of the causes, mechanisms, and genetics of IS was conducted by reviewing several studies and recent findings. The role of specific genes in monogenic stroke disorders, implications of polygenic influences, recent advances in genetic evaluation, and methods for early IS detection were synthesized and discussed.
Results. IS was influenced by genetics, underlying medical conditions, and lifestyle. Specific genes, including NOTCH3, HTRA1, COL3A1, and mtDNA, are involved in monogenic stroke syndromes and predominantly affect younger populations. Polygenic disorders, studied using genome-wide association study and sequencing techniques, play a prominent role in susceptibility to IS. Genetic evaluation has become instrumental in risk prediction, influencing clinical practices and potential therapeutic interventions. Early detection methods, such as enhanced imaging techniques and blood biomarkers, are crucial for managing IS outcomes.
Conclusion. Ischemic stroke is a complex disorder with a significant global impact. Understanding its genetic basis promises to improve early detection and effectively establish preventative measures. Although genetic evaluation and innovative detection techniques offer promise, focusing on lifestyle modifications and managing underlying health conditions remains paramount for reducing the incidence and severity of IS. Continuous research and technological advancements are essential for developing personalized medical approaches and improving global healthcare strategies.
Primary Progressive Aphasia: Variants and Main Language Domains
Abstract
Language is one of the higher brain functions and the primary method of communication, so it plays a key role in human social functioning. Primary progressive aphasia, as a slowly progressive neurodegenerative disease with a clinical predominance of different speech and language disorders, is a promising model for a more detailed study of topographic distribution of language disorders. This review presents data on different clinical variants of primary progressive aphasia and the corresponding clinical and neuroanatomical correlates that have significantly expanded the modern understanding of the neural network language organization.
Aerobic Exercise in Rehabilitation of Patients with Parkinson’s Disease
Abstract
Disability due to Parkinson’s disease (PD) is increasing faster than for any other neurodegenerative disorder. A multidisciplinary approach to rehabilitation of patients with PD is recommended including various types of physical training. Because of its general beneficial effect, aerobic endurance training is necessary for all people to maintain their health. Aerobic exercise in PD is also used for rehabilitation of motor and non-motor symptoms. This article justifies the choice of aerobic exercise intensity, shows challenges in selecting intensity based on maximum oxygen consumption due to the influence of clinical and behavioral factors, difficulties in assessing the effectiveness of therapy due to the wide range of training intensity and amount in the studies. The article summarizes types of exercises used in rehabilitation of patients with PD (walking, Nordic walking, training with a bicycle ergometer and treadmill, aquatic exercises) and their benefits for patients with different courses of the disease. For patients with freezing of gait, bicycle ergometer is a piece of equipment of choice for aerobic stationary training, and Nordic walking is a preferred type of outdoor training. The author shows the role of aerobic training in the treatment of non-motor symptoms such as depression, cognitive changes, and sleep disorders. A question about the use of aerobic training in patients with Hoehn–Yahr grade 4–5 of PD remains open. Further studies are needed to evaluate training protocols, assess rehabilitation effectiveness and evaluate physical training in the advanced PD.
Sensitivity and Specificity of the Diagnostic Method for Detecting α-Synuclein as a Histological Marker for Parkinson's Disease in Salivary Gland Tissues: a Systematic Review and Meta-analysis
Abstract
Immunohistochemistry of α-synuclein (α-syn), a marker for Parkinson's disease, in salivary gland (SG) biopsy specimens has been actively studied as a method of verification and early diagnosis. This systematic review and meta-analysis aim to analyze characteristics of study designs and evaluate pooled sensitivity and specificity.
The review included publications that were found by keyword search and met inclusion criteria. The meta-analysis of comparative studies was conducted using a univariate random-effects model to calculate pooled specificity and sensitivity.
The systematic review and meta-analysis included 16 and 13 clinical studies, respectively. Antibodies against modified α-syn, double detection, and incisional biopsy specimens of SGs were the most common approaches used in the studies. There is a need for clinical studies with quantitative data analysis. Approximately 15% of patients experienced adverse events, which were more common in case of fine-needle aspiration biopsy specimens of SGs. Pooled sensitivity and specificity (regardless of the anti-α-syn antibody type and SG size) were 76.6% and 98.0%, respectively. Sensitivity (76.3%) and specificity (99.3%) were higher when antibodies against phosphorylated α-syn and major SGs were used.
The most promising variant of the method involved double detection using antibodies against modified α-syn and markers of nerve fibers in incisional biopsy specimens of major SGs and quantitative data analysis. The meta-analysis revealed a possibility of developing this diagnostic method and implementing it into routine practice owing to its high sensitivity and specificity. Further studies employing quantitative data analysis are required to gain deeper insight into the method's role in verifying Parkinson's disease and informing the severity of neurodegeneration and disease prognosis.
Cellular and Molecular Mechanisms Underlying Transcranial Magnetic Stimulation: Experimental Data for Evaluating Changes in Nervous Tissue
Abstract
Transcranial magnetic stimulation (TMS) is a non-invasive method for targeted modulation of the electrical activity of brain neurons with a magnetic field. Although TMS efficacy was demonstrated in the treatment of several neurological and mental disorders, changes in nervous tissue at the cellular and molecular levels with different duration and intensity of stimulation have been relatively understudied by cellular neurobiology methods. Aim. The aim of this review was to evaluate and summarize new experimental data on the fundamental mechanisms underlying the action of TMS and its potential in modulating structural and functional changes in nervous tissue. This article summarizes recent data on the effects of different TMS protocols on the mechanisms underlying synaptic plasticity, neurogenesis, and neuronal differentiation. Separate sections summarize the neuroprotective effects of this method and glial microenvironment response. Studies to investigate the mechanisms of TMS will contribute to the development of more effective and reliable treatment protocols.
Clinical analysis
Complication of COVID-19: Mild Encephalopathy Syndrome with Reversible Splenial Lesion
Abstract
A syndrome of mild encephalopathy with reversible splenial lesion (MERS) was described in a post-COVID-19 male patient. The clinical manifestations included neuropsychiatric and visual abnormalities; when focusing separately on an object (one eye closed), the left eye perceived it as normal, but the right eye perceived it as multiple images moving diagonally into the distance. T2, FLAIR, and ADC magnetic resonance imaging (MRI) showed a splenial lesion that resolved rapidly without using corticosteroids. The patient was diagnosed with cerebral polyopia because he saw images arranged in ordered rows after focusing on an object. Differential diagnoses included astigmatism, palinopsia, and polyopic visual hallucinations. Monocular polyopia is explained by anomia associated with the patient's partial split-brain syndrome (the splenial lesion, neuropsychiatric abnormalities); involvement of the pathways from the frontal eye fields to the brainstem structures responsible for initiating extraocular eye movements. The association of neurological complications with prior COVID-19, rapid resolution of symptoms, and MRI lesions without initiating immunosuppressive therapy suggested endotheliopathy as the cause of COVID-19 complications.
Amyotrophic Lateral Sclerosis and Myasthenia Gravis: Comorbidities and Differential Diagnosis
Abstract
Amyotrophic lateral sclerosis (ALS) and myasthenia gravis (MG) are both characterized by primarily motor deficit, and their differential diagnosis may be sometimes challenging. We present a case report of a patient with late-onset ALS, which was initially misdiagnosed for anti-acetylcholine (anti-AChR) antibody-positive MG. In some cases, ALS has been thought to be triggered by MG. In the presented case report, elevated anti-AChR antibody titers (positive anti-AchR Ab) had no clinical significance and possibly indicated an immune response to structural changes in the postsynaptic membrane of the neuromuscular synapse in the ALS patient.