Dataset Information

Voluntary Inhibitory Control of Chorea: A Case Series.

ABSTRACT:

Background

Volitional control of involuntary movements has so far been considered a hallmark of tic disorders. However, modulation of involuntary movements can also be observed in other hyperkinesias.

Cases

Here, we present 6 patients with chorea able to suppress their involuntary movements, on demand. In 3 of them, surface electromyography was used to quantify degree of suppression and confirmed a reduction of muscle activity up to 68%, during volitional control.

Conclusion

This observation represents a first step toward a description of a new clinical feature in choreic syndromes and an opportunity to redefine the role of volitional inhibition in hyperkinetic movement disorders.

SUBMITTER: Bonomo R

PROVIDER: S-EPMC7111572 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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Publications

Voluntary Inhibitory Control of Chorea: A Case Series.

Bonomo Roberta R Latorre Anna A Balint Bettina B Smilowska Katarzyna K Rocchi Lorenzo L Rothwell John C JC Zappia Mario M Bhatia Kailash P KP

Movement disorders clinical practice 20200220 3

<h4>Background</h4>Volitional control of involuntary movements has so far been considered a hallmark of tic disorders. However, modulation of involuntary movements can also be observed in other hyperkinesias.<h4>Cases</h4>Here, we present 6 patients with chorea able to suppress their involuntary movements, on demand. In 3 of them, surface electromyography was used to quantify degree of suppression and confirmed a reduction of muscle activity up to 68%, during volitional control.<h4>Conclusion</h ...[more]

PMID: 32258230

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Project description:BackgroundVacuolar protein sorting 13 homolog A (VPS13A) disease, historically known as chorea-acanthocytosis, is a rare neurodegenerative disorder caused by biallelic mutations in VPS13A, usually resulting in reduced or absent levels of its protein product, VPS13A. VPS13A localizes to contact sites between subcellular organelles, consistent with its recently identified role in lipid transfer between membranes. Mutations are associated with neuronal loss in the striatum, most prominently in the caudate nucleus, and associated marked astrogliosis. There are no other known disease-specific cellular changes (eg, protein aggregation), but autopsy reports to date have been limited, often lacking genetic or biochemical diagnostic confirmation.ObjectiveThe goal of this study was to characterize neuropathological findings in the brains of seven patients with VPS13A disease (chorea-acanthocytosis).MethodsIn this study, we collected brain tissues and clinical data from seven cases of VPS13A for neuropathological analysis. The clinical diagnosis was confirmed by the presence of VPS13A mutations and/or immunoblot showing the loss or reduction of VPS13A protein. Tissues underwent routine, special, and immunohistochemical staining focused on neurodegeneration. Electron microscopy was performed in one case.ResultsGross examination showed severe striatal atrophy. Microscopically, there was neuronal loss and astrogliosis in affected regions. Luxol fast blue staining showed variable lipid accumulation with diverse morphology, which was further characterized by electron microscopy. In some cases, rare degenerating p62- and ubiquitin-positive cells were present in affected regions. Calcifications were present in four cases, being extensive in one.ConclusionsWe present the largest autopsy series of biochemically and genetically confirmed VPS13A disease and identify novel histopathological findings implicating abnormal lipid accumulation. © 2023 International Parkinson and Movement Disorder Society.

Dataset Information

Voluntary Inhibitory Control of Chorea: A Case Series.

Background

Cases

Conclusion

Publications

Voluntary Inhibitory Control of Chorea: A Case Series.

Similar Datasets

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