The experience of pediatric deep brain stimulation (DBS) of the globus pallidus internus (GPi) in the treatment of early-onset DYT1 generalized dystonia is still limited. Here, we report the surgical experience of bilateral GPi-DBS under general anesthesia by using microelectrode recording in a 7-year-old girl with early-onset DYT1 generalized dystonia. Excellent improvement of her dystonia without neurological complications was achieved. This case report demonstrates that GPi-DBS is an effective and safe method for the treatment of medically refractory early-onset DYT1 generalized dystonia in children.
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http://dx.doi.org/10.3340/jkns.2012.52.3.261 | DOI Listing |
Int J Mol Sci
August 2024
Key Laboratory of Horticultural Crop Biology and Germplasm Innovation in South China, Ministry of Agriculture, College of Horticulture, South China Agricultural University, Guangzhou 510642, China.
Nat Cell Biol
September 2024
Peter O'Donnell Jr. Brain Institute, UT Southwestern, Dallas, TX, USA.
As lifelong interphase cells, neurons face an array of unique challenges. A key challenge is regulating nuclear pore complex (NPC) biogenesis and localization, the mechanisms of which are largely unknown. Here we identify neuronal maturation as a period of strongly upregulated NPC biogenesis.
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
December 2023
University of Memphis, Memphis, Tennessee, USA.
Background: Genetic factors have been implicated in the pathogenesis of blepharospasm (BSP), a dystonia characterized by excessive blinking and involuntary eyelid closure. Previous research identified a co-segregating deleterious variant (GRCh38/hg38, NC_000009.12: g.
View Article and Find Full Text PDFJ Neuropathol Exp Neurol
July 2023
The Cognitive and Research Center of New Jersey, CRCNJ, Springfield, New Jersey, USA.
Brain lesions exclusive to dystonia, or specific forms of it, such as isolated dystonia, have been rarely described. While the identification of distinctive intra- or extraneuronal abnormalities in childhood-onset generalized dystonia (DYT1) brains remains lacking, recent stereology-based findings demonstrated hypertrophy of neurons in the substantia nigra (SN) of DYT1-carriers manifesting dystonia (DYT1-manif) versus DYT1-carriers nonmanifesting dystonia (DYT1-nonmanif), and age-matched control subjects (C). Because other brain regions including the cerebellum (CRB) have been implicated in the pathomechanisms of dystonia, we investigated neurons of the dentate nucleus (DN), the "door-out" nucleus of the CRB.
View Article and Find Full Text PDFExp Neurol
September 2023
Department of Applied Physiology and Kinesiology, University of Florida, Gainesville, FL, USA; Norman Fixel Institute for Neurological Diseases, Department of Neurology, University of Florida, Gainesville, FL, USA; Department of Biomedical Engineering, University of Florida, Gainesville, FL, USA.
Dystonia is a neurological movement disorder characterized by repetitive, unintentional movements and disabling postures that result from sustained or intermittent muscle contractions. The basal ganglia and cerebellum have received substantial focus in studying DYT1 dystonia. It remains unclear how cell-specific ∆GAG mutation of torsinA within specific cells of the basal ganglia or cerebellum affects motor performance, somatosensory network connectivity, and microstructure.
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