Rapid-onset dystonia-parkinsonism (RDP) is one of the best-known and most frequently encountered phenotypes of ATP1A3-associated disorders. It is characterized by acute or subacute onset of dystonia, parkinsonism, and bulbar symptoms, typically triggered by provoking factors such as fever, infections, or physical exert...
L. R. Zaripova, K. M. Evdokimov, Ksenia A. Gromova et al.· Annals of Clinical and Exper...· 0 citations
Modern criteria for Alzheimer’s disease (AD) suppose a clinical-biological nature of the disease. The increasingly widespread adoption of biomarker-based diagnostics for AD necessitates a clearer clinical profile of patients, particularly given a range of complex clinical, organizational and financial-economic issues...
Y. Shpilyukova, K. Nevzorova, E. Fedotova et al.· Russian neurological Journal· 0 citations
Background Amyotrophic lateral sclerosis (ALS) associated with mutations in the superoxide dismutase 1 (SOD1) gene is recognized for phenotypic variability, yet cerebellar ataxia as a presenting feature has been reported only in isolated cases. Methods We describe four unrelated patients: three men and one woman, aged...
D. Shevchuk, E. Nuzhnyi, E. Fedotova et al.· Frontiers in Neurology· 0 citations
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