Amyotrophic lateral sclerosis (ALS) is a clinically and pathogenically heterogenic disease. Clinical heterogeneity refers to the initial localization of the pathological process, the variability of the combination of signs of upper and lower motor neuronal damage, the age of the onset, the rate of progression, hereditary predisposition, and the presence of non-motor clinical manifestations. A large number of forms of the disease are described (primary lateral sclerosis, progressive muscular atrophy, progressive bulbar palsy, flail-arm syndrome, and others), which in some cases can be considered as independent diseases due to the localization of the pathological process, disease course and prognosis. In recent years, convincing evidences of the genetic and pathogenetic heterogeneity of ALS have also been obtained. Large heterogeneity makes it difficult to create a unified classification of ALS. Formal classifications used, for example, in the diagnostic criteria of El Escorial or the International Classification of Diseases of the 10th revision, do not take into account many of the important features of the disease. The article describes the clinical heterogeneity of ALS. The proposed classifications are compared. A new classification system that taking into account various features of the disease and can improves understanding of the diversity of ALS is described.

The article reviews the current concept of lower extremity spasticity, which is a frequent disabling consequence of stroke. Gait biomechanics, step cycle and main pathologic patterns of lower extremity are described (hip adduction, knee flexion, knee extension, foot plantar flexion, equinovarus foot position, toes flexion, hallux extension), including muscles involved in the pathological process. Additionally the article contains detailed information on pathologic principles of lower extremity spasticity development. Special focus is given to sarcomeregenesis as an essential element of the development of potential conditions for muscle tissue adaptation to a new state and restoration of muscle length and strength. At present Botulinum toxin A (BTA) is used in a complex spasticity management programs. The results of clinical studies performed in the last decade supporting the efficacy of Botox® (Onabotulinumtoxin A) in the treatment of spasticity are reviewed. Effective BTA doses are proposed. Authors came to the conclusion that BTA as a part of complex rehabilitation in patients with poststroke spasticity of lower extremity promotes treatment efficacy due to a decrease of muscle tone and increase of range of movements in the joints. BTA should be regarded as an essential part of standard rehabilitation programs. Further studies to define optimal muscles for intervention, BTA doses and rehabilitation schemes are still needed.

One of the most common neurological symptoms in children of the first year of life is seizures, the etiology of which is manifold. Investigations in recent years have shown that a significant number of infantile seizures are hereditary in nature. The review identifies the main groups of hereditary diseases and syndromes, in whose symptom complex convulsions are observed, outlines the main features of their clinical manifestations and methods of diagnosis. Correct and timely diagnosis of hereditary pathology helps not only to determine the nature of the course of the disease and the effectiveness of the use of various antiepileptic drugs, but also to significantly improve the effectiveness of genetic counseling of burdened families and to prevent the occurrence of recurrent cases оf disease.

Objective: to evaluate the rate of sleep disorders of insomnia type among patients with amyotrophic lateral sclerosis (ALS) and to study the connection between these disorders and clinical characteristics of the disease. Materials and methods. The study included 101 patients (50 men and 51 women) with confirmed ALS diagnosis; mean age was 58.9 ± 9.6 years. The patient data was evaluated using the ALS Functional Rating Scale Respiratory (ALSFRS-R), Hamilton Depression Rating Scale, and ALS-specific Quality of Life Scale. Results. Sleep disorders were observed in 77 (76.3 %) ALS patients, among whom slow progression was more common (χ2 criterion 3.2; р = 0.048), quality of life was significantly lower (t = –2.043; p = 0.044), and total score per the Hamilton Depression Rating Scale was significantly higher (t = –3.98; р = 0.0001). Patients were divided into 3 groups: The 1st group included patients with primarily motor disorders, the 2nd group included patients with pronounced emotional depressive disorders without severe motor disorders, and the 3rd group included patients with both factors but duration of the disease was longer than in the 2nd group. The rate of postsomniac disorders was significantly higher in the 2nd group than in the 1st group (p = 0.022), and combination of presomniac, intrasomniac, and postsomniac disorders was significantly higher in the 3rd group than in the 1st (р = 0.007). Conclusions. Sleep disorders associated with ALS are accompanied by various complaints (presomniac, intrasomniac, postsomniac, or their combinations) depending on the severity of motor or emotional disorders in these patients.

Introduction. Hereditary motor and sensory neuropathies are genetically heterogeneous group of disorders characterized by a progressive muscle weakness, atrophy of hand and leg muscles often associated with deformations, and mild to moderate sensory loss. Axonal neuropathy with neuromyotonia (AR-ANM) is one of the rarest autosomal recessive hereditary neuropathies. Materials and methods. Six (6) patients (4 men, 2 women) aged 14–40 years from unrelated families with suspicion of HMSN were examined clinically, neurophysiologically and using DNA analysis. Results. Neurophysiological examination revealed motor and sensory neuropathy with neuromyotonia signs in all patients. In all cases homozygous variant of recessive mutations с.110G/C (р.Arg37Pro) in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) has been revealed. Conclusion. There is the first description of the clinical and neurophysiological features of six patients with AR-ANM in Russia.

We report a 40-year-old woman presented with consciousness disturbance, ataxia, asymmetrical limb weakness, hyperreflexia. Due to magnetic resonance imaging findings, the patient was diagnosed with Bickerstaff’s brainstem encephalitis overlapped with acute transverse myelitis. Later she developed distal muscles atrophy and the electroneuromyographic study revealed axonal motor neuropathy, therefore acute motor axonal neuropathy was diagnosed. The patient underwent one course of intravenous immunoglobulin therapy with the regression of symptoms and magnetic resonance imaging changes. Nine months after symptoms onset, the patient has completely recovered. This overlapping case of Bickerstaff’s brainstem encephalitis, acute transverse myelitis and acute motor axonal neuropathy provides further support that these conditions are part of the same spectrum.