We found that chronic perfusion of ouabain into the basal ganglia of mice generated severe parkinsonism-like symptoms. Blockade of sodium pumps in the basal ganglia, however, never produced dystonia. Chronic perfusion of ouabain into the cerebellum, in contrast, resulted in ataxia and severe ...
DYT3 is a common X-linked recessive dystonia withparkinsonism, also termed “Lubag.” DYT3 is caused by agene mutationat Xq13.1 that codes for TATA-binding protein-associated factor-1 (TAF1), which is expressed in the striatum. The average age of onset is approximately 40 years, and the...
ResearchOpen Access18 Jun 2024 npj Digital Medicine Volume: 7, P: 160 Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data Federico Parisi Giulia Corniani Christopher D. Stephen ResearchOpen Access09 Jun 2024 Scientific Reports Volume: 14...
Genetic defects are known only for a minority of cases presenting with pure dystonia (such as for DYT1 or DYT6 dystonias), by contrast, dystonia plus syndromes (dopa responsive dystonia, myoclonus dystonia and rapid onset dystonia parkinsonism) are caused by known genotypes. There is no a...
et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 43, 169–175 (2004). Article PubMed Google Scholar Brashear, A. et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1...
Non-motor symptoms and quality of life in dopa-responsive dystonia patients. Parkinsonism Relat Disord. 2017;45:57–62. https://doi.org/10.1016/j.parkreldis.2017.10.005. Article CAS Google Scholar Smit M, et al. Psychiatric co-morbidity is highly prevalent in idiopathic cervical dystonia and...
The main motor symptoms are collectively called parkinsonism,or a ‘parkinsonian syndrome’. The disease can be either primary or secondary. Primary Parkinson's disease is referred to as idiopathic (having no known cause), although some atypical cases have a genetic origin, while secondary ...
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet. 1996;5(7):1023–8. CAS PubMed Google Scholar Romberg RW, Needleman SB, Snyder JJ, et al. Methamphetamine and amphetamine derived from the ...
Journal2022, Clinical Parkinsonism & Related Disorders Roongroj Bhidayasiri, ... Daniel D. Truong 1 Introduction Oromandibular dystonia (OMD) is a form of focal dystonia that involves the masticatory, lower facial, labial, and lingual musculature innervated by the trigeminal, facial, and hypoglossal...
FD may be associated with focal tremor or rigidity. The possibility of similar symptoms in certain earlyparkinsonismcan be observed. • In musicians' FD, some symptoms are so uncommon and the anxiety in some patients so great, it is possible to question their psychological condition; however, ...