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
This is the largest reported case series of patients homogeneous for a single SOD1 mutation and a shared cerebellar ataxia-onset ALS phenotype and underscores the importance of SOD1 genetic testing in patients with progressive adult-onset ataxia of undetermined origin.
D. Shevchuk, E. Nuzhnyi, E. Fedotova et al.· Frontiers in Neurology· 0 citations
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