A patient with paroxysmal dystonic choreoathetosis also had familial ataxia. His brother was similarly affected but had rare paroxysmal episodes. No secondary or symptomatic forms of this type of paroxysmal dyskinesia have ever been reported. Episodes were briefly controlled with acetazolamide and were almost completely eliminated by clonazepam therapy.
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http://dx.doi.org/10.1212/wnl.32.10.1184 | DOI Listing |
Tremor Other Hyperkinet Mov (N Y)
December 2024
Veracity Neuroscience LLC, Memphis, Tennessee, USA.
Background: mutations are associated with a diverse set of distinct neurological syndromes and intermediate phenotypes that may include extra-neural features. Overall, genotype-phenotype correlations are weak. There are no consensus treatments.
View Article and Find Full Text PDFCureus
September 2024
General Medicine, Sri Ramaswamy Memorial (SRM) Medical College Hospital and Research Centre, SRM Institute of Science and Technology (SRMIST), Chengalpattu, IND.
Mov Disord
December 2024
Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Neurobiol Dis
October 2024
Center for Neurodegeneration and Experimental Therapeutics, Birmingham, AL, USA; Department of Neurology, UAB, Birmingham, AL, USA.
Altered interaction between striatonigral dopaminergic (DA) inputs and local acetylcholine (ACh) in striatum has long been hypothesized to play a central role in the pathophysiology of dystonia and dyskinesia. Indeed, previous research using several genetic mouse models of human isolated dystonia identified a shared endophenotype with paradoxical excitation of striatal cholinergic interneuron (ChIs) activity in response to activation of dopamine D2 receptors (D2R). These mouse models lack a dystonic motor phenotype, which leaves a critical gap in comprehending the role of DA and ACh transmission in the manifestations of dystonia.
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