Objective: To report the clinical benefits of bilateral deep brain stimulation (DBS) of the globus pallidus internus (GPi) in a patient with X-linked dystonia parkinsonism (XDP).
Design: Case report.
Setting: Tertiary referral center. Patient A 40-year-old Filipino man with genetically confirmed XDP and severely disabling generalized dystonia. Intervention Bilateral GPi DBS.
Main Outcome Measures: The primary outcome measures were the Burke-Fahn-Marsden Dystonia Scale (BFMDS) severity and disability scores, and the secondary outcome measure was the Unified Parkinson Disease Rating Scores.
Results: At the 1-year postoperative follow-up, there was 80.4% improvement in the BFMDS severity score and 66.7% improvement in the BFMDS disability score.
Conclusion: Bilateral GPi DBS seems to be very effective in improving dystonia in XDP.
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http://dx.doi.org/10.1001/archneurol.2010.187 | DOI Listing |
J Neurol Phys Ther
January 2025
Center of Expertise for Parkinson & Movement Disorders, Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Gelderland, the Netherlands (S.S., N.M.V., S.K.L.D., B.R.B.); Harvard Medical School, Boston, Massachusetts (A.A., M.A.S., E.A.M.); Departments of Epidemiology and Nutrition, T. H. Chan School of Public Health, Harvard University, Boston, Massachusetts (A.A.); Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts (M.A.S., E.A.M.); Mass General Institute for Neurodegenerative Disease, Massachusetts General Hospital, Boston, Massachusetts (M.A.S.); and Biostatistics Center, Massachusetts General Hospital, Boston, Massachusetts (E.A.M.).
Background And Purpose: Physical activity has beneficial symptomatic effects for people with Parkinson's disease (PD), but increasing-and sustaining-a physically active lifestyle remains challenging. We investigated the feasibility (ability to increase step counts) and usability of a behavioral intervention using a motivational smartphone application to remotely increase physical activity in PD.
Methods: We performed a 4-week, double-blind pilot trial.
NAR Mol Med
October 2024
Department of Biology, Tufts University, 200 Boston Ave., Medford, MA 02155, USA.
H-DNA is an intramolecular DNA triplex formed by homopurine/homopyrimidine mirror repeats. Since its discovery, the field has advanced from characterizing the structure to discovering its existence and role . H-DNA interacts with cellular machinery in unique ways, stalling DNA and RNA polymerases and causing genome instability.
View Article and Find Full Text PDFClin Park Relat Disord
November 2024
MGH Institute of Health Professions, 36 1 Ave, Charlestown Navy Yard, Boston, MA 02129, United States.
Introduction: Malnutrition is a leading cause of death for persons living with X-linked dystonia-parkinsonism (XDP), a degenerative disease endemic to the Philippines. Difficulty swallowing has been linked to malnutrition in other populations; however, knowledge of this relationship is limited in XDP. As such, the purpose of this study was to determine the association between dysphagia and malnutrition in this population.
View Article and Find Full Text PDFHum Reprod
January 2025
Department of Neurology, University Hospital Schleswig Holstein, Campus Luebeck, Luebeck, Germany.
Study Question: Is there a difference in the use of endocrine endometriosis therapy in endometriosis patients with and without endometrioma?
Summary Answer: Patients with endometriomas received significantly less endocrine endometriosis treatment (present intake in 42.5%) compared to patients with other forms of endometriosis and without endometriomas (present intake in 52.1%).
CNS Neurosci Ther
November 2024
Sean M. Healey & AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA.
Aims: Although the genetic locus of X-linked dystonia parkinsonism (XDP), a neurodegenerative disease endemic in the Philippines, is well-characterized, the exact mechanisms leading to neuronal loss are not yet fully understood. Recently, we demonstrated an increase in myeloperoxidase (MPO) levels in XDP postmortem prefrontal cortex (PFC), suggesting a role for inflammation in XDP pathogenesis. Therefore, we hypothesized that inhibiting MPO could provide a therapeutic strategy for XDP.
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