Lacroixhauser3601

The SPG51 patient was compound heterozygous for novel AP4E1 mutations c.2604delA (p.Ser868fs) and c.3346A>G (p.Arg1116Gly). Parent's heterozygosity in all cases was confirmed by Sanger sequencing. Phenotypes were typical early development delay, muscle hypotony transforming into sever spasticity, mental deficiency, microceplaly (in all SPG47 cases), epilepsy (in 3 SPG47 and SPG51 cases), MRI changes, mainly hydrocephalus and/or hypoplasia of corpus callosum (in 3 SPG47 cases) and few extraneural signs.

AP4-associated SPG should be taken into consideration in patients with early-onset severe nervous diseases mimicking non-genetic organic CNS disorders and massive exome sequencing (WES or other variants) should be performed.

AP4-associated SPG should be taken into consideration in patients with early-onset severe nervous diseases mimicking non-genetic organic CNS disorders and massive exome sequencing (WES or other variants) should be performed.Dopamine is a direct mediator of neuroimmune interactions. Recent studies show that by acting on the dopaminergic receptors, it is possible to modulate Th17-immune response, which play a crucial role in the pathogenesis of multiple sclerosis. Dopamine can modulate Th17 cells function as well as dendritic cell-mediated Th17-immune response that allows considering dopaminergic receptors as a new therapeutic target in multiple sclerosis. In this short communication, the prospects of using dopaminergic therapy as a pathogenetic treatment for multiple sclerosis are discussed.

To study the correlation between the blood plasma antioxidant profile and the transcriptional activity of the Nrf2 gene in acute psychosis in patients with schizophrenia and alcoholism.

The study included 40 patients with the first episode of the paranoid form of schizophrenia, 33 patients with schizophrenic psychosis who had previously received therapy, 22 patients with first-time acute alcohol psychosis, and 25 healthy volunteers. The level of Nrf2 in peripheral blood mononuclear cells was estimated by flow cytometry, and the antioxidant profile of blood plasma was estimated with chemiluminometry.

The total and «thiol» antioxidant capacity were reduced in patients with initially diagnosed schizophrenic psychosis and alcoholic psychosis. In patients after treatment, the total antioxidant capacity was higher compared to previously untreated patients. https://www.selleckchem.com/products/BMS-794833.html The level of Nrf2 protein in mononuclear cells in patients with the first psychotic episode was significantly lower than in patients with alcoholism and loe level of Nrf2 in patients with schizophrenia indicates a disturbance of the activation of the Nrf2 pathway due to, possibly, a part associated with the participation of uric acid.

To identify levels of inflammation markers (the enzymatic activity of leukocyte elastase (LE), the functional activity of the α1-proteinase inhibitor (α1-PI), autoantibodies to neurotrophin S100b and myelin basic protein (MBP)) in blood plasma of old- and young-aged patients with schizophrenia in comparison with features of the clinical course of schizophrenia.

Two age groups of patients with schizophrenia were examined. The 1

group consisted of 19 female patients, aged 60 to 78 years (mean age 67.3±5.4 years), with disease duration from 0.5 months to 29 years (9.7±7.6). The 2

group comprised 24 female patients, aged 19 to 42 years (mean age 26.8±6.3 years), with disease duration from 0.15 to 6.6 years (3.3±2.4). Nineteen age-matched healthy women were included in two control groups. Inflammatory and autoimmune markers were measured in blood plasma using «Neuro-immuno-test technology».

In the 1

group, a relative smoothness and rigidity of the productive symptoms profile, a reduction of disease progression and a tendency to the development of negative symptoms were established. The 2

group was characterized by polymorphism, severity and dynamism of productive disorders, as well as the progression and lability of the schizophrenic process. The most significant differences in the spectrum of the analysed immune markers relate to the ratio of the activity of LE and its inhibitor α1-PI, i.e. proteinase-inhibitory index (PII).

The identified multidirectional changes of PII in elderly patients compared to the controls may reflect the imbalance of the inflammatory response and the role of this imbalance in shaping the characteristics of psychopathological symptoms in these patients.

The identified multidirectional changes of PII in elderly patients compared to the controls may reflect the imbalance of the inflammatory response and the role of this imbalance in shaping the characteristics of psychopathological symptoms in these patients.

To analyze a complex of EEG parameters and quantitative clinical evaluations of depressive-delusional conditions in patients with schizoaffective disorder and to clarify their neurophysiological mechanisms.

A study included 25 female patients, aged 22-40 years, with depressive-delusional conditions. Patients were assessed at baseline and after 4-6 weeks of treatment using HDRS and PANSS. EEG was recorded at each visit.

Significant correlations were revealed between the values of pre-treatment background EEG spectral power in narrow frequency bands and quantitative pre-treatment and post-treatment scores of patient's clinical conditions.

The results allow clarifying the brain mechanisms of depressive-delusional disorders and reveal possible EEG-predictors of therapeutic response in its treatment.

The results allow clarifying the brain mechanisms of depressive-delusional disorders and reveal possible EEG-predictors of therapeutic response in its treatment.

To study the severity of disorders of executive functions in children with dyslexia and to assess the effectiveness of treatment of this pathology with cortexin.

The main study group included 60 children, aged 8-11 years, with a specific reading disorder (F.81.0). Reading skills were assessed using methods of T.A. Fotekova, T.V. Akhutina. Diagnostic examination included neurological examination with dyspraxia test, electroencephalography with visual and quantitative analysis. To objectify the severity of memory impairments, the «Working memory» technique was used. Attention and impulsivity disorders were quantified using SNAP-IY and the Test of Variables of Attention (TOVA). The control group consisted of 60 children of the same age without symptoms of dyslexia. Cortexin was used to treat 30 patients from the study group, 30 patients received encephabol. A control study to analyze the effectiveness of the therapy was carried out one month after the end of therapy.

Children with dyslexia are characterized by a higher level of inattention and impulsivity, as well as significantly lower indicators of working memory compared to children from the control group.