We report two new cases of symptomatic paroxysmal non-kinesigenic dystonia. The first is a 68-year-old woman with paroxysmal spontaneous dystonic spasms in her right arm lasting 1 minute. They occurred 1-2/day, a few months after a cerebral infarction (left internal capsule and left lenticular nucleus) which occurred 6 years ago. The second is a 30-year-old woman with a 7-year-history of spontaneous dystonic postures (flexion spasms) in her left arm lasting 15 minutes and occurring monthly. In this case an Arnold-Chiari malformation with cervical syringomyelia was discovered.
Download full-text PDF |
Source |
---|
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.
View Article and Find Full Text PDFeNeuro
August 2024
Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114
is a Na,K-ATPase gene expressed specifically in neurons in the brain. Human mutations are dominant and produce an unusually wide spectrum of neurological phenotypes, most notably rapid-onset dystonia parkinsonism (RDP) and alternating hemiplegia of childhood (AHC). Here we compared heterozygotes of two mouse lines, a line with little or no expression (3) and a knock-in expressing p.
View Article and Find Full Text PDFAnn Afr Med
July 2024
Neurology and Neurophysiology Center, Vienna, Austria.
Hyperkinesias in a patient with complex-I deficiency due to the variant m.10191T>C in MT-ND3 have not been previously reported. The patient is a 32 years-old female with multisystem mitochondrial disease due to variant m.
View Article and Find Full Text PDFCase Rep Psychiatry
March 2024
University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
This is a case report of three cases of trazodone-induced buccal-lingual dyskinesias. Each case demonstrated the distinct pattern of the development of this dyskinesia after trazodone exposure for several months. All cases showed abrupt cessation of the movement disorder when the drug was discontinued.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!