Results 31 to 40 of about 2,327 (119)

Differential Response of Dystonia and Parkinsonism following Globus Pallidus Internus Deep Brain Stimulation in X-Linked Dystonia-Parkinsonism (Lubag)

, 2010
<i>Background:</i> X-linked dystonia-parkinsonism (XDP; DYT3; Lubag) is an adult-onset hereditary progressive dystonia/parkinsonism which is typically minimally responsive to pharmacological treatment.
Pam Zeilman, Charles E. Jacobson, IV, Genko Oyama, Ramon L. Rodriguez, Irene A. Malaty, Hubert H. Fernandez, Kelly D. Foote, Nelson Hwynn, Michael S. Okun   +8 more
core   +1 more source

Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism

Clinical Parkinsonism & Related Disorders
Introduction: Malnutrition is a leading cause of death for persons living with X-linked dystonia-parkinsonism (XDP), a degenerative disease endemic to the Philippines.
Tabitha H. Kao, Perman Gochyyev, Nutan Sharma, Jan K. de Guzman, Melanie Supnet Wells, Patrick Acuna, Shasha Li, Hannah P. Rowe, Bridget J. Perry   +8 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders

Frontiers in Molecular Biosciences, 2022
The human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) is the first member of the solute carrier 6 (SLC6) protein superfamily. GAT-1 (SLC6A1) is one of the main GABA transporters in the central nervous system.
Florian P. Fischer, Florian P. Fischer, Ameya S. Kasture, Thomas Hummel, Sonja Sucic   +4 more
doaj   +1 more source

Bilateral pallidal stimulation for X-linked dystonia parkinsonism

, 2010
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.
Adams, John R., Lim, Shen-Yang, Cristina Torres Diaz, Poon, Yu-Yan, Shen-Yang Lim, Lozano, Andres M., Pettarusp M. Wadia, Elena Moro, Yu-Yan Poon, Wadia, Pettarusp M., Andres M. Lozano, Moro, Elena, Diaz, Cristina Torres, John R. Adams   +13 more
core   +1 more source

Remote Magnetomechanical Neuromodulation Uncovers Therapeutic Mechanisms for Alleviating Parkinsonian Symptoms in Freely Moving Mice

Advanced Science, EarlyView.
Magnetomechanical neuromodulation using magnetic nanodiscs enables remote activation of neurons. In a hemiparkinsonian mouse model, alternating magnetic fields actuate the nanodiscs to generate torque that opens mechanosensitive ion channels within the subthalamic nucleus, thereby modulating basal ganglia motor circuitry.
Anouk Wolters, Lorenzo Signorelli, Christian Herff, Sophia Gimple, Renzo Riemens, Gunter Kenis, Kim Rijkers, Hamed Shabani, Jyh‐Jang Sun, Yasin Temel, Hans Clusmann, Danijela Gregurec, Sarah‐Anna Hescham   +12 more
wiley   +1 more source

Translation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP)

Frontiers in Neurology, 2019
Background: X-linked dystonia parkinsonism (XDP) is a neurodegenerative disease endemic to Filipinos with maternal lineage from Panay Island, Philippines. Patients present with dystonia concurrent with or followed by parkinsonism. Non-motor symptoms also
Nicole B. Aliling, Adovich S. Rivera, Roland Dominic G. Jamora, Roland Dominic G. Jamora   +3 more
doaj   +1 more source

iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons

Cell Reports, 2023
Summary: Motor neuron degeneration, the defining feature of amyotrophic lateral sclerosis (ALS), is a primary example of cell-type specificity in neurodegenerative diseases.
Aaron Held, Michelle Adler, Christine Marques, Charles Jourdan Reyes, Amey S. Kavuturu, Ana R.A.A. Quadros, I. Sandra Ndayambaje, Erika Lara, Michael Ward, Clotilde Lagier-Tourenne, Brian J. Wainger   +10 more
doaj   +1 more source

Early Globus Pallidus Internus Stimulation in Pediatric Patients With Generalized Primary Dystonia: Long-Term Efficacy and Safety [PDF]

, 2010
Primary generalized dystonia presents mainly at a young age and commonly is severely disabling. The authors report the long-term follow-up (mean, 73 months; range, 50-101 months) of 5 pediatric patients (mean age at surgery 13 years; range, 8-16 years ...
Feddersen, Berend, Heinen, Florian, Borggraefe, Ingo, Bötzel, Kai, Mehrkens, Jan Hinnerk   +4 more
core   +1 more source

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu, Zhiwei Fang, Huxin Gao, Tinghua Zhang, Tao Zhang, Peng Liu, Hongliang Ren, Wu Yuan   +7 more
wiley   +1 more source