考虑其他遗传变性肌张力障碍时,应行脊髓小脑共济失调(SCA)、脑组织铁沉积性神经变性(NBIA)、肝豆状核变性[HLD,亦称Wilson病(WD)]、亨廷顿病(HD)、家族性基底节钙化(FBGC,亦称Fahr病)、青少年型帕金森综合征(juvenile parkinsonism)等相关致病基因检测,包括ATXN2/SCA2、TBP/SCA17、ATXN3/SCA3、 ATXN1/SCA1、CAC...
Parkinsonism and dystonia may coexist in a number of neurodegenerative, genetic, toxic, and metabolic disorders and as a result of structural lesions in the basal ganglia. Parkinson's disease (PD) and the ‘Parkinson-plus’ syndromes (PPS) account for the majority of patients with the ...
The clinical features of both Parkinsonism and dystonia can be visualized in conditions in which dopaminergic neurotransmission is impaired. The phenomenology and pathophysiology of diseases in which Parkinsonism and dystonia coexist can lead to important insights into the function of the basal ganglia and...
Dystonia–Parkinsonism SyndromesClinicians throughout history have painstakingly provided us with classification and nomenclature of the several movement disorders that obscure diagnosis. As we come to understand, several of these movement disorders overlap with one another as part of the course of the ...
Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene. This observational study sought to determine if cognitive performance is decreased in patients with RDP compared with mutation-negative controls. We studied 22 familial RDP patients, 3 non-motor-manifesting mutation-...
Neurology Department, Avicenne Hospital, APHP, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Sorbonne Paris Nord, Réseau NS-PARK/FCRIN, Bobigny, France B. Degos Corresponding author B. Degos Ethics declarations Conflicts of interest ...
Contemporary encephalitis lethargica presenting with agitated catatonia, stereotypy, and dystonia-parkinsonism. Mov Disord. 2007;15:2281–4.R.C. Dale, R. Webster, D. Gill, Contemporary encephalitis lethargica pre- senting with agitated catatonia, stereotypy, and dystonia-parkinsonism, Mov. Disord. 22...
The genetic basis of X-Linked dystonia-parkinsonism (XDP) has been difficult to unravel, in part because all patients inherit the same haplotype of seven s... DC Bragg,K Mangkalaphiban,CA Vaine,... - 《Proceedings of the National Academy of Sciences of the United States of America》 被...
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...
One very important complex disorder associated with dystonia is Parkinson’s disease (PD): although, naturally, the cardinal movement disorder in PD is parkinsonism, up to 30% of patients may be affected by dystonia (Shetty, Bhatia, & Lang, 2019) and many more may experience dystonia as a ...