Background. Paired-pulse transcranial magnetic stimulation allows assessing intracortical inhibition. However, a high variability of motor evoked potential (MEP) amplitude is a limitation of its use. Therefore, a new threshold tracking technique became of particular interest, which is based on the measurement not of the amplitude, but of the change of test stimulus intensity required to induce a MEP of a given amplitude.
Aim. The assessment of absolute and relative reliability of short-interval intracortical inhibition (SICI) using threshold tracking technique in healthy volunteers.
Materials and methods. All healthy volunteers included into the study (n = 12) underwent diagnostic paired-pulse transcranial magnetic stimulation in two consecutive days. The procedure included registration of passive motor threshold; the registration of 30 MEPs with supra-threshold intensity and determination of SICI using threshold tracking technique. At the first day the procedure was performed twice (T1, T2), at the second day – once (T3). Standard error of the measurement (SEM) and SEM% were calculated to assess absolute reliability, and intra-class correlation coefficient – for the assessment of relative reliability.
Results. A good or excellent relative reliability were observed for SICI averaged at intervals 1.0–3.0 ms and 1.0–7.0 ms when assessed within a day or at different days. Relative reliability of SICI at separate interstimulus intervals varied in a wide range. SEM% was more than 10 % both for averaged SICI and SICI at all interstimulus intervals. Motor threshold had excellent reliability both assessed within a day and at different days, and low SEM values (5.6 % for Т1–Т2 and 4.39 % for Т1–Т3). High SEM and SEM% were observed for average MEP amplitude, it also had a moderate relative reliability when assessed within a day and a poor one – at different days.
Conclusion. Calculation of averaged SICI can be recommended in further studies because of its high reliability values.

Background. Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that causes paralysis of muscles due to degeneration of motor neurons. According to available data, the incidence of ALS in different regions of the world is from 0.6 to 3.8 per 100,000 population per year. Data obtained during the study of the epidemiology of ALS at the regional level can be used in planning medical resources, in particular, calculating the necessary respiratory equipment and funds for nutritional support.
Aim. Clinical and epidemiological analysis of ALS cases registered in the Krasnoyarsk region for the period 2018–2022.
Materials and methods. A clinical and epidemiological analysis of ALS cases registered in the Krasnoyarsk region from 2018 to 2022 was conducted. To do this, we used data from the specialized office of neuromuscular pathology of the Regional Clinical Hospital in Krasnoyarsk and the Krasnoyarsk Regional Medical Information and Analytical Center. Diagnosis verification was carried out in accordance with the generally accepted El Escorial and Gold Coast criteria. The functional state and degree of neurological deficit were assessed using the ALS-FRS-R scale.
Results. Over the period from 2018 to 2022, 78 cases of ALS were registered. The incidence rate was 0.54 cases per 100,000 population per year. In 2022, the prevalence rate was 1.16 cases per 100 thousand population. The time from symptom onset to diagnosis of the disease ranged from 4 to 57 months, with the average time to diagnosis being 17 months. Most patients were diagnosed with ALS when their ALS-FRS-R score decreased by 7–11 points. The division of patients into groups of rapid, moderate, and slow diagnostic correlates with life expectancy. Patients who are diagnosed quickly have a higher rate of disease progression, which results in a low life expectancy.
Conclusion. The creation of specialized centers will improve the diagnosis and management of patients with ALS and plan the costs of palliative care. The increase in the incidence and detection of ALS emphasizes the need to develop new approaches to the treatment and rehabilitation of patients with ALS.

Background. Duchenne muscular dystrophy is a hereditary, X-linked, progressive, disabling disease. One of the possible pathogenetic methods for treating this disease is the drug ataluren, which acts at the stage of protein translation in the ribosome and makes it possible to read information from mRNA, despite the presence of a premature stop codon in it, and, as a result, synthesize the dystrophin protein.
Aim. To evaluate the dynamics of the course of Duchenne muscular dystrophy in patients receiving appropriate drug and non-drug therapy and patients receiving pathogenetic therapy with ataluren.
Materials and methods. We examined 38 patients with genetically confirmed Duchenne muscular dystrophy. Of these, 11 patients with a genetically confirmed nonsense mutation receiving pathogenetic therapy with ataluren and 27 patients in the comparison group with other mutations in the dystrophin gene. 6‑minute walk test and timed function tests was done at baseline and during follow-up. Ataluren side effects were assessed.
Results. Statistically significant positive dynamics were revealed during follow-up at 12 month when assessing the distance of a 6‑minute walk test and tests for getting up from the floor and running 10 meters in groups taking ataluren and receiving standard drug therapy with the initial initiation of a course of regular physical exercise. The control group was characterized by negative dynamics in speed tests.
Conclusion. Thus, when taking ataluren in the standard recommended dosage, patients with Duchenne muscular dystrophy with a nonsense mutation shows a decrease in the rate of disease progression and an improvement in speed and endurance. The initial prescription of regular non-weightbearing aerobic exercise on the early ambulatory stage is also characterized by an increase in motor skills.

Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder typically manifesting in boys aged 2–5 years, characterized by a progressive course. According to natural disease progression data, individuals with DMD typically lose the ability to walk independently by the age of 13. In most cases, the disease leads to cardiorespiratory complications, resulting in a lethal outcome between the ages of 20–30.
In recent years, there have been therapeutic agents developed for the pathogenic treatment of this condition. One such medication is ataluren (Translarna®), used in patients with DMD caused by the formation of a “stop codon” (nonsense mutation) in the DMD gene, responsible for the development of the disease.
This article presents the experience of applying ataluren (Translarna®) in boys residing in Moscow who suffer from Duchenne muscular dystrophy.

Proximal spinal muscular atrophy 5q (SMA 5q) is a severe autosomal recessive neuromuscular disease characterized by progressive symptoms of flaccid paralysis and muscular atrophy due to degeneration of α-motor neurons of the anterior horns of the spinal cord. To date, the main modifying factor of spinal muscular atrophy is considered to be the number of copies of the SMN2 gene. However, a sufficient number of other genetic and non-genetic modifiers of the course of SMA have been described.
Advanced neonatal screening, which started in the Russian Federation in 2023, allows detecting SMA 5q before the onset of clinical manifestations. However, to start therapy and select the right drug, it is important to know not only the main modifying factor (the number of copies of SMN2), but also other genetic causes that may affect the age of the disease manifestation or the effectiveness of therapy.

Hereditary spastic paraplegias represent a group of hereditary neurodegenerative disorders predominantly affecting corticospinal tracts which manifest with prominent spasticity and reduced power in the muscles of the lower limbs. According to clinical signs hereditary spastic paraplegias are divided into uncomplicated (classic) and complicated forms, according to the nature of inheritance – into autosomal dominant, autosomal recessive and X-linked. Mechanisms of the development of hereditary spastic paraplegias depend on the form and could be associated with misfolding of the proteins in endoplasmatic reticulum, mitochondrial dysfunction, changes in the cholesterol metabolism etc. Diagnosis is made after exclusion of other disorders of the central nervous system and could be confirmed by molecular genetic methods. Treatment of hereditary spastic paraplegias is symptomatic.

Pudendal neuralgia is the most common type of neurogenic chronic pelvic pain and is defined as a chronic neuropathic pain syndrome caused by compression and/or neuropathy of the genital nerve and localized in the area of its sensory innervation. Pudendal neuralgia negatively affects daily activity and reduces the quality of life. The diagnosis of pudendal neuralgia is established on the basis of clinical manifestations and examination data in accordance with the Nantes criteria, while instrumental methods (ultrasound, magnetic resonance and computed tomography, electrodiagnostic methods) do not allow verifying the diagnosis due to significant limitations. Currently, there are no unambiguous recommendations and standards for the treatment of pudendal neuralgia, however, a combination of different methods and a personalized approach allows in some cases to achieve significant success and long-term pain control. The article highlights in detail the anatomical features of the pudendal nerve, examines the possibilities and stages of diagnosis of pudendal neuralgia, and provides an overview of therapeutic methods from the standpoint of evidence-based medicine.

We report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease, its mimicry of neonatal hypoxic-ischemic encephalopathy and cerebral palsy. The timeliness of early diagnosis and initiation of specific therapy makes it possible to improve the condition of patients.

Duchenne muscular dystrophy is a genetic, X-linked, relentlessly progressive disease. Due to a genetic defect, the reading frame is disrupted during the synthesis of the dystrophin protein, resulting in its loss of functionality. As a result of the absence of dystrophin, there is a gradual destruction of muscle cells. In recent years, pathogenetic therapy for Duchenne muscular dystrophy has become available in Russia. However, the therapy available in Russia is specific, depending on the mutation variant, and may be recommended for approximately one third of patients. This article discusses the features of exon-skipping therapy, the clinical effectiveness, and safety of this group of drugs. The effectiveness and safety of the therapy are demonstrated through a clinical case of a patient receiving one of the drugs in this group.

We present a case of a rare disease, aromatic L-amino acid decarboxylase deficiency (AADCD), with delayed diagnosis even after a pathogenic mutation indicative of AADCD was found. In most cases, AADCD causes marked impairment of motor and psycho- speech development and is accompanied by severe episodes of dystonia – oculogyric crises. The careful attention of neurologists, pediatricians, geneticists, gastroenterologists, and pulmonologists in cases of a complex set of diverse symptoms determines the success of early diagnosis and the earliest possible prescription of modern gene replacement therapy for AADCD.