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.

Aim. To collect and analyze real-world data on long-term enzyme replacement therapy with Glurazyme® in patients with type I Gaucher disease (GD). Materials and methods. The study included 31 patients with type I GD (21 patients with intact spleen and 10 patients with a history of splenectomy) over 18 years. Efficacy was assessed by the change in hemoglobin level (primary endpoint), platelet count, spleen and liver volumes, prevalence of bone marrow infiltration, and the number of patients with quiet hip disease according to magnetic resonance imaging (secondary endpoints). Safety was assessed by the incidence of treatment-related adverse events and serious adverse events, as well as by the incidence of production of imiglucerase binding and neutralizing antibodies (IgG, IgE). The mean follow-up duration was 54 weeks. Results. The study did not show a statistically significant change in hemoglobin levels, platelet count, or spleen and liver volumes. There was an upward tendency in platelet count in the overall group (p=0.1) and patients after splenectomy (p=0.08). The prevalence of specific bone marrow infiltration and the number of patients with quiet hip disease remained unchanged. During the safety analysis, one adverse reaction, a mild increase in alanine aminotransferase, was reported, which resolved spontaneously by the end of the study. The immunogenicity analysis showed the initial presence of anti-drug antibodies (ADAs) in 5 (16.7%) of the 30 examined patients. At the end of the study, ADAs were detected in only 3 (10%) patients. The detected ADAs had a low titer and no neutralizing activity, and they did not affect the treatment effectiveness. Conclusion. Long-term therapy with the imiglucerase biosimilar was associated with a stable course of GD without progression. It was characterized by a good safety profile and low immunogenicity.

Leukoencephalopathy with vanishing white matter (VWM disease) is a progressive neurodegenerative disease with a specific magnetic resonance pattern characterized by diffuse lesions to the white matter and cystic degeneration. In this article, we report a case VWM disease in a boy with white matter lesions, in whom early onset and neurological symptoms suggested infantile form of the disease. The diagnosis was confirmed by the detection of biallelic mutations c.1688GA (p.Arg563Gln) and c.1309GA (p.Val437Met) in the EIF2B5 gene. The c.1309GA mutation (p.Val437Met) was detected for the first time; it caused the development of severe disease.

Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10—15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the ERBB4 gene (ALS19) has been reported in 2013. A protein encoded by the ERBB4 is probably involved in ubiquitous component of the pathogenesis of ALS. We present a case of ALS associated with a new pathogenic variant of the ERBB4 gene, with early bulbar onset and slow progression of the disease within 10 years.

Нутритивная пауза перед неонатальным скринингом у детей в отделении интенсивной терапии: систематический обзор