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
Introduction. Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder in which early affective and cognitive symptoms may be associated with limbic system involvement; however, the pattern of microstructural changes in its major white matter pathways remains insufficiently understood.
The aim of...
G. A. Anikin, A. S. Filatov, A. Liaskovik et al.· Annals of Clinical and Exper...· 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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