Results 61 to 70 of about 1,464 (252)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Asymmetric Central Processing of Sensory Stimuli in Idiopathic Focal Dystonia

Behavioural Neurology, 1997
Idiopathic torsion dystonia is characterized by persistent abnormalities of posture. We tested the hypothesis that abnormal sensorimotor processing is involved pathophysioiogically by looking for asymmetry of sensory processing in patients with ...
R. A. Grünewald, J. Shipman, Y. Yoneda, H. J. Sagar   +3 more
doaj   +1 more source

Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia

Frontiers in Human Neuroscience, 2015
There is increasing evidence that the cerebellum has a role in the pathophysiology of primary focal hand dystonia and might provide an intervention target for non-invasive brain stimulation to improve function of the affected hand.
Lynley eBradnam, Lynley eBradnam, Lynton eGraetz, Michelle Nadine McDonnell, Michael eRidding   +4 more
doaj   +1 more source

Inhibition of the dorsal premotor cortex does not repair surround inhibition in writer's cramp patients

, 2013
Contains fulltext : 115399.pdf (Publisher’s version ) (Open Access)Writer's cramp is a task-specific form of focal dystonia, characterized by abnormal movements and postures of the hand and arm during writing.
Warrenburg, B.P.C. van de, Hoffland, B.S., Veugen, L.C., Stegeman, D.F., Veugen, L.C.E., van de Warrenburg, B.P.   +5 more
core   +1 more source

Validity of a Wearable Digital Insole for Assessing Gait ON and OFF in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Gait impairment is a distinctive symptom of Parkinson's disease that negatively impact mobility. We assessed the validity of wearable digital insoles against a validated reference gait analysis system for measuring select gait characteristics in patients with Parkinson's disease. Methods A comparative analysis between digital insoles
Deborah A. Hall, Kimberly Kwei, Rolando J. Acosta, Bharatkumar Koyani, Erin Robertson, Pratyush Rai, Roland Barge, Emily Timm, Nicollette L. Purcell, Natasha Desai, Dhanesh Patel, Ana‐Maria Visoiu‐Knapp, Samuel Stuart, Rinol Alaj, Matthew F. Wipperman, Oren Levy, Joan A. O'Keefe   +16 more
wiley   +1 more source

Postinfectious Manifestation of Wilson’s Disease in COVID-19 Presenting as Writer’s Cramp: A Case Report

Acta Neurologica Taiwanica
Wilson’s disease (WD) is a neurometabolic disorder of copper metabolism with varied neurological presentations. COVID-19 has been associated with a multitude of multisystemic involvement, especially nervous system due to direct involvement, systemic ...
Rajesh Verma, K. P. Arjun Bal, Rajarshi Chakraborty   +2 more
doaj   +1 more source

Writer's cramp: increased dorsal premotor activity during intended writing. [PDF]

Hum Brain Mapp, 2013
Contains fulltext : 115440.pdf (Publisher’s version ) (Open Access)Simple writer's cramp (WC) is a task-specific form of dystonia, characterized by abnormal movements and postures of the hand during writing.
Delnooz CC, Helmich RC, Medendorp WP, Van de Warrenburg BP, Toni I.   +4 more
europepmc   +2 more sources

Writer's cramp: restoration of striatal D2-binding after successful biofeedback-based sensorimotor training.

, 2007
Contains fulltext : 51593.pdf (Publisher’s version ) (Open Access)INTRODUCTION: Previous studies of writer's cramp have detected cerebral sensorimotor abnormalities in this disorder and, more specifically, a reduced striatal D2-binding ...
Werf, S.P. van der, Horstink, C.A., Cools, A.R., Berger, H.J.C., Oyen, W.J.G., Horstink, M.W.I.M.   +5 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source