Annals of Clinical and Experimental Neurology

Introduction. Atherosclerosis is a complex pathophysiological process with a wide range of clinical manifestations. Active research is underway to determine the prevalence of intracranial atherosclerosis across different ethnic groups, the role of modifiable and non-modifiable risk factors in its pathogenesis, and the advances in diagnostic algorithms for patients with extra-/intracranial atherosclerosis.

The aim was to evaluate manifestations of intracranial atherosclerosis (patterns of intracranial artery lesions, including pathomorphological findings) and identify potential associations between known risk factors and intracranial atherosclerosis in patients with cerebrovascular disease.

Materials and methods. During the first phase, a retrospective analysis of autopsy protocols was conducted for 166 patients (66% men) hospitalized at the Research Center of Neurology between 1976 and 2007. The second phase involved clinical, laboratory, and imaging data from 120 patients (59% men) with atherosclerotic disease of the brachiocephalic arteries. These patients were divided into two subgroups: a main subgroup with intracranial artery involvement combined with extracranial atherosclerosis (n = 60) and a control subgroup with isolated extracranial artery involvement (n = 60).

Results. Pathomorphological assessment revealed a high rate of atherosclerotic lesions in the carotid artery system at both extra- and intracranial levels. One-third of patients had ≥50% atherosclerotic stenosis in intracranial arteries without significant extracranial stenosis. Multivariate logistic regression analysis identified obesity (odds ratio [OR] 3.22), male sex (OR 6.17), and low-density lipoprotein levels (OR 2.5) as the most significant independent clinical laboratory factors associated with intracranial atherosclerosis.

Conclusion. The role of intracranial atherosclerosis in cerebrovascular events is underestimated. Overlapping neurological and generalized manifestations of isolated intra- and extracranial atherosclerosis may give a misleading impression of the true prevalence of intracranial atherosclerosis.

Introduction. Delirium, or an acute confusional state, is a common complication affecting between 10 and 48% of acute stroke patients. In the acute phase of stroke, delirium contributes to prolonged hospital stays, higher treatment costs and in-hospital and long-term mortality, increased risk of disability, and reduced potential for post-stroke rehabilitation.

The aim of this study is to identify delirium risk factors in acute stroke patients, to study the effects of delirium on mortality rates, post-stroke cognitive functioning, and to assess treatment options.

Materials and methods. One hundred and thirty-eight patients (93 males and 45 females) with a mean age of 71 [69.0; 74.8] years were enrolled in the study. Delirium was assessed using the Confusion Assessment Method (CAM); for initial assessment and repeated measurements of delirium severity, the Delirium Rating Scale (DRS) was used. Pre-stroke cognitive decline was assessed retrospectively using the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE). Neuropsychological testing and assessment of caregiver burden using the Caregiver Burden Scale (CBS) were performed at 3, 6, and 18 months post-stroke onset.

Results. An IQCODE score of > 91 is a risk factor for severe delirium in acute stroke patients (p < 0.001). Severe delirium in acute stroke was associated with greater cognitive deficits (p < 0.05) and greater caregiver burden (р < 0.01) at 3 and 6 months post-stroke. DRS score > 15 and delirium duration > 10 days were found to be death risk factors at 18 months after stroke onset (OR = 3.58; 95% CI 1.4–9.19; p = 0.008 and OR = 2.56; 95% CI 1.03–6.38; p < 0.044, respectively). Central acetylcholinesterase inhibitors reduced the delirium duration (p = 0.015), improved cognitive function at 3, 6, and 18 months post-stroke (p < 0.01), and decreased caregiver burden at 3 and 6 months post-stroke (р < 0.05).

Conclusion. Delirium in the acute phase of stroke contributes to post-stroke cognitive decline in the patients and greater burden for their caregivers. Central acetylcholinesterase inhibitors can improve the post-stroke patient’s condition and decrease the strain for caregivers.

Introduction. Synucleinopathies are mostly sporadic and multifactorial neurodegenerative disorders, which determines the involvement of various risk factors in their development. The polymorphic variants of the SNCA gene are considered as one of the predisposing genetic factors.

Study aim: to evaluate the effect of the 16 single nucleotide polymorphisms (SNP) located in various regulatory regions of the SNCA gene on the risk of developing three main forms of synucleinopathy — PD, DBL, and MSA — in Russian cohort of patients.

Materials and methods. The study included 73 PD patients, 46 MSA patients, 10 DLB patients, and 62 healthy volunteers. Genotyping of 16 SNPs of the SNCA gene was performed by direct Sanger sequencing on a capillary genetic analyzer. The Benjamini–Hochberg procedure was applied for multiple pairwise comparisons.

Results. A comparative case-control study showed that only one (rs11931074) of the 16 SNP analyzed was associated with PD: the minor T allele, located in the 3’-UTR region of the SNCA gene, increased the risk of PD (OR = 5.19; p < 0.05 (Benjamini–Hochberg adjusted p = 0.6)). An association with MSA was found for 11 of 16 SNP. The minor allele of 5 SNP (rs2619364, rs2619363, rs2619362, rs2619361, rs181489) reduced the risk of the disease, while for 6 SNP (rs7687945, rs2301134, rs2301135, rs3756063, rs2736990, rs11931074) increased the risk. The Benjamini–Hochberg procedure neutralized the significance of only one of these associations (rs181489).

Conclusion. This study is the first to genotype a large group of polymorphisms located in various regulatory regions of the SNCA gene and to establish significant associations with the risk of developing one of the forms of synucleinopathies, MSA, in the Russian population.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the death of upper and lower motor neurons. Numerous studies show that structural and functional impairments of neuromuscular junctions (NMJ) occur as early as the presymptomatic stage of ALS. NMJ involvement is independent and one of the primary events in ALS pathogenesis. Aim: to review the data on characteristics and mechanisms of NMJ dysfunction at pre- and postsynaptic levels in ALS patients and a transgenic animal model of the disease. Furthermore, we report on the dysfunction of perisynaptic Schwann cells and impaired mechanisms of motor neuron and skeletal muscle interaction in ALS, with a focus on reviewed publications on targeting of molecular mechanisms underlying NMJ dysfunction and disruption in ALS. The NMJ may be a potential target for novel therapeutic approaches for ALS.

This review presents recent data on one of the most promising neuroimaging techniques, pharmacological functional magnetic resonance imaging (phFMRI). PhFMRI technologies are described as well as task-based approaches inducing neuronal activation in the areas of interest when evaluating the effects of neuroactive agents. We reviewed the potential use of phFMRI in various neurological disorders such as cerebrovascular disease and epilepsy, as well as in the management of metabolic disorders, cognitive impairment, pain syndrome, etc. Limitations of phFMRI and possible ways to address them in designing and conducting studies are presented. The potential uses of phFMRI for the objective assessment of the targeted effects of pharmacological agents are suggested.

Pompe disease (glycogen storage disease type II) is a rare autosomal recessive multisystem disorder characterized by the deposition of glycogen in skeletal muscles and internal organs. The late-onset form is characterized by slow progression with proximal muscle damage, respiratory failure, and less severe internal organ damage than the infantile form.

The article presents a case report of a 61-year-old female patient who underwent inpatient treatment. The patient had been having progressive muscle weakness for over 20 years and had a positive family history, but the reason for further evaluation and treatment was hemorrhage in the left cerebellar hemisphere. Laboratory and instrumental data are presented and clinical manifestations are discussed.