Anti-NMDA-R encephalitis is a relatively frequent form of autoimmune encephalitis. Initial clinical features of anti-NMDA-R encephalitis resemble those of schizophrenia exacerbation which resulted in hospitalization of patients to mental care facilities. Taking into account high lethality and potential curability, detection of this condition is an important clinical problem. The authors describe a case report of encephalitis with NMDA-R antibodies. This report is the first in the domestic literature. The difficulties of timely diagnosis, diagnostic criteria and treatment algorithm are presented.
Parkinson's disease (PD) is a common neurodegenerative disease. Literature sources indicate the association of PD and mutations in the glucocerebrosidase a (GBa) gene. according to our study, the frequency of the two most common mutations in the GBa gene, n370S and L444P, is 1.85%. Mutation carriers have slower progression of motor symptoms, but are more likely to develop drug-induced motor fluctuations and dyskinesia. in carriers of GBa mutations, the severity of cognitive impairment corresponds to age-matched patients without mutations. Cognitive deficit in PD patients carrying GBa mutations primarily affects visual-spatial functions and often is associated with psychotic disorders and parasomnias syndrome. Other non-motor disorders in patients with GBa mutations do not differ from those in patients without mutations. in patients with PD and GBa mutations, a slower escalation of levodopa dose should be recommended because of the high risk of complications of therapy.
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