CLINICAL AND MOLECULAR GENETIC ASPECTS OF STRÜMPEL'S HEREDITARY SPASTIC PARAPLEGIA IN UZBEKISTAN

Abstract

The research work is based on a prospective and retrospective observation of 95 patients with hereditary spastic paraplegia (HSP), who constituted the main group. Among the examined patients of the main group, there were 58 (61%) boys and 37 (39%) girls. The average age in the main group was 7.8±0.48 years. All patients complained of limb weakness of varying degrees, gait disturbance. The age gradation of the patients ranged from 2 years to 15 years. When studying the pedigrees of patients with HSP, in 34 cases the marriage was related, which amounted to 35.7%. It was found that in 48% of cases (27 families) there were patients with a similar disease in families. During the clinical and neurological examination of patients with HSP, we revealed both pure spastic paraplegia, characterized only by motor disorders (82.1%), and spastic paraplegia with complications (17.8%) in the form of impaired craniocerebral insufficiency, dysfunction of the pelvic organs (7.3%), a history of seizures (5.2%), polyneuropathies (11.5%), extraneural symptoms were detected in 3 (3.1%) patients, i.e. congenital skin changes in the form of ichthyosis. In 2 patients with uncomplicated HSP, whole genome sequencing in the SPAST/SPG4 gene was performed; in both cases, homozygous carriage of pathogenic autosomal dominant mutations chr2:32369901CAT>C and c.1617-105 T>C in the coding region of the SPG4 gene in exon 15 responsible for for the synthesis of the protein spastin in the nervous system.