Results 51 to 60 of about 1,054 (243)

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

Clinical spectrum of dystonia in a tertiary care movement disorders clinic in India

Annals of Movement Disorders, 2018
CONTEXT: Scant data exist regarding the overall distribution of dystonia phenotypes in individuals presenting with abnormal posturing to a movement disorder center in India.
Roopa Rajan, Achal K Srivastava, Reghu Anandapadmanabhan, Deepti Vibha, Awadh K Pandit, Kameshwar Prasad   +5 more
doaj   +1 more source

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

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

Preconditioning of low-frequency repetitive transcranial magnetic stimulation with transcranial direct current stimulation: evidence for homeostatic plasticity in the human motor cortex

, 2004
Recent experimental work in animals has emphasized the importance of homeostatic plasticity as a means of stabilizing the properties of neuronal circuits. Here, we report a phenomenon that indicates a homeostatic pattern of cortical plasticity in healthy
Siebner, H.R., Siebner, Hartwig Roman, Lemon, Roger N., Nitsche, M.A., Paulus, Walter J., Rothwell, John C., Lemon, R.N., Nitsche, M. A., Lang, N., Paulus, W., Rizzo, V., Rothwell, J.C.   +11 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

Complex approach to the therapy of rare forms of dystonia

Анналы клинической и экспериментальной неврологии, 2017
Neurological manifestations of the disease in patients with rareforms of dystonia residing in Belarus are analyzed. Clinical variantsof these dystonias and possible methods of their complextreatment are discussed.
S. A. Likhachev, T. N. Charnukha, S. A. Navosha, V. F. Melnic, A. V. Borisenko, G. V. Zabrodzetc, N. I. Charnenka, G. V. Zobnina   +7 more
doaj   +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

Biopsychosocial Determinants of Hand Function and Its Trajectories Over Five Years in Patients With Hand Osteoarthritis

Arthritis Care &Research, EarlyView.
Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule, Coen van der Meulen, Jos Runhaar, Frits R. Rosendaal, Margreet Kloppenburg   +4 more
wiley   +1 more source