Introduction Wilson’s disease (WD) is a rare genetic disorder of copper metabolism in which impaired copper homeostasis may enhance amyloid aggregation and trigger neurodegeneration. Tau protein is a highly soluble microtubule-associated phosphoprotein that plays a significant role in microtubule stabilization; it is also a critical component of neurotoxic degenerative mechanisms. Tau has been shown to be involved in neuronal degeneration and axonal damage, and impaired copper metabolism has been shown to be involved in copper intoxication and thus associated with the processes of neurodegeneration and cellular damage. We have therefore investigated tau protein as a potential marker of axonal impairment and neurodegeneration. Methods Patients with WD ( n = 47; mean age ± standard deviation [SD] 30.19 ± 7.87 years; mean disease duration : 10.06 ± 3.9 years) and healthy controls (HC; n = 30; mean age 29.6 ± 4.73 years) were tested for serum tau protein levels using an enzyme-linked immunosorbent assay method. All patients were receiving a stable penicillamine dose as ongoing therapy. Results Patients with WD had a higher mean tau protein level than did the HC (221.7 ± 135.1 vs. 71.14 ± 20.56 pg/mL, p < 0.0001). Patients with WD also had abnormally high serum tau protein levels ( t statistic 6.047, 95% confidence interval − 218.2 to − 95.86) in both the cerebral and hepatocerebral forms of WD, with patients having the cerebral form showing a tendency toward higher tau levels. We found that tau protein did not differ according to gender, disease duration, age at disease onset, ceruloplasmin serum level and copper serum level. Conclusion This study provides novel data revealing that high tau protein levels in WD patients could be a potential biomarker for axonal impairment and possible neuronal damage due to tau protein, leading to neurodegeneration in WD.
The purpose of the study: is to identify the factors contributing to the occurrence of paradoxical kinesias (PK) in Parkinson’s disease (PD) and to assess their frequency and clinical manifestations (according to the results of interviews). All patients interviewed were divided into two groups. The first group (45 people) — patients without symptoms of dementia, the second group (18 people) — patients with symptoms of dementia. The MMSE assessment was conducted no more than three months before this survey to assess the frequency of PK phenomenon, before the introduction of quarantine restrictions. Patients with PD initially have virtually no idea about the phenomenon of PK, but when informed (individually and in groups) in a group of patients without clinically significant cognitive decline, understanding of the essence and possibilities of PK increases from 6.7% to 88.9% of respondents. Patients with PD, cognitively preserved, note the manifestations of PK in the form of a spontane- ous ability to perform movements faster and more dexterously in 82.2% of observations, with vital movements of posture control, walking, and balance observed in 93.3% of patients, and the per- formance of complex acts in 51.1% of observations. Factors contributing to the manifestation of PK are often (in more than 50.0% of cases) in the group of patients without significant cognitive decline is - rhythm, counting, cues (84.4%), listening to music (93.3% of answers), environment (64.4%), strong emotions (93.3%); communication with certain people (88.9 %; answers); quality of sleep (80.0 %); less frequent, but practically applicable are internal order and conscious control (48.9 %) and visualization of the motor act (40.0 %). The realization of the phenomenon of PK with the help of factors that reveal it can be used in conducting classes on motor rehabilitation, but it is necessary to preserve the cognitive poten- tial of patients. The rehabilitation potential of patients with PD is defined as medium or low level. This level of rehabilitation potential is generally sufficient for the implementation of the developed individual rehabilitation programs.
The purpose of the study: is to assess the influence of the nature of the prognosis on the formation of beneficial and pathological neuroplasticity, taking into account the type of course in sporadic and familial forms of multiple sclerosis (MS). Research methods: by questionnaire and neurological examination in 84 patients, the analysis of clinical parameters occurring at different time stages in relapsing MS (RMS) and secondary-progressive MS (SPMS) (debut, relapsing stage (RS) in RMS and SPMS, progression stage in SPMS) in sporadic (54 patients) and fa- milial (30 patients) forms of multiple sclerosis (MS) was carried out. The nature of the prognosis (favourable for RMS — 38 patients; unfavourable for SPMS — 46 patients) was evaluated based on previously developed clinical diagnostic criteria using mathematical analysis. To study the mechanisms of formation of beneficial and pathological neuroplasticity on the models of different prognosis variants (favourable and unfavourable), the frequency of clinical indicators for the two forms of the disease was analyzed. With a favourable prognosis of RMS, mild debuts in sporadic and moderate debuts in familial forms significantly (p < 0.05) prevail. A tendency to predominance (p > 0.05) was obtained for monosyndromic debuts in sporadic and short oligosyndromic debuts in combination with an alternation of mild and mod- erate relapses in familial forms. For the unfavourable prognosis of SPMS, the steady variant of progression in the familial form significantly prevails. A tendency to predominance was found for polysyndromic debut of moderate severity in sporadic and short remission after debuting in combination with an alternation of severe and mild relapses in familial forms of RS. The data obtained indicate a less benign course of the familial form compared to the sporadic form due to the predominance of some clinical parameters with important prognostic value. The formation of alternative variants of prognosis (favourable in RMS and unfavourable in SPMS) oc- curs by selective involvement in a single pattern of clinical indicators at each time stage of the disease. The overwhelming majority of “different sets” of clinical parameters in sporadic and familial forms of MS indicates the differential involvement of beneficial neuroplasticity mechanisms for a favourable prognosis in RMS and pathological neuroplasticity for an unfavourable prognosis in SPMS.
Annotation. Currently, there is an increase in dementias of various origins, which is largely due to the tendency of the aging population of the globe, with adverse environmental factors. Dementia also occurs at a young, working-aged, which makes them not only a medical but also a social problem. The incidence of Alzheimer's disease (AD) is so high that the WHO has declared the 21st century the century of the AD epidemic. The task of the work is to conduct a comprehensive clinical and laboratory examination of patients with multiple sclerosis (MS) and patients with Wilson's disease (WD) to study the problem of neurodegenerative diseases. The Mini-Mental Status Exam (MMSE) scale was used to screen for cognitive function and to study the level of intellectual performance of patients. To determine verbal memory, the method was used: “memorization of 10 words”, and to study the personality and emotional sphere, the method of Derogatis SCl-90-P was used. The sample of patients with MS was 111 people, and psycho diagnostic examination of patients with WD was performed in 33 patients. Various cognitive disorders are characteristic of MS patients. The level of general intellectual productivity is in the range from normative indicators to very pronounced systemic disorders of cognitive functions. With the age of patients and the duration of the disease, the severity of these disorders increases. A comprehensive clinical and laboratory study showed that the pathogenesis and stages of development of the dementia process in patients with WD and MS coincide with those in patients with Alzheimer’s disease and depends on three groups of factors: genetic predisposition, natural (biological) aging, and endogenous and exogenous pathogenic factors. on the brain. The study concluded that in patients with WD and MS in the pathogenetic process are always involved structures that ensure the functioning of cognitive functions of the brain, which leads to the development of their defects. For the treatment and prevention of these patients, a comprehensive, pathogenetically grounded, and personalized therapy should be prescribed.
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