Results 121 to 130 of about 39,084 (245)

Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD‐ADCY5)

Movement Disorders, EarlyView.
Abstract Background Mixed movement disorders linked to ADCY5 (MxMD‐ADCY5) represent a rare hyperkinetic movement disorder resulting from pathogenic variants in ADCY5. Psychiatric symptoms are suspected to be part of the phenotype. Objective The study aim was to assess psychiatric comorbidities in patients with MxMD‐ADCY5.
Aurélie Méneret, Clément Tarrano, Asya Ekmen, Diane Doummar, Victoria Gonzalez, Christine Tranchant, Mathieu Anheim, Philippe Damier, Eoin Mulroy, Kailash P. Bhatia, Laura Cif, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Florence Riant, Manon Gomes, Vanessa Brochard, Agathe Roubertie, Oriane Trouillard, Caroline Dubacq, Yulia Worbe, Mohamed Doulazmi, Emmanuel Roze   +23 more
wiley   +1 more source

Myoclonus in Ataxia-Telangiectasia

Tremor and Other Hyperkinetic Movements, 2015
Background: Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT.
Pichet Termsarasab, Amy C. Yang, Steven J. Frucht   +2 more
doaj   +1 more source

A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome. [PDF]

, 2013
Multiple sclerosis (MS) is a chronic disease characterized by inflammation, demyelination, gliosis (scarring), and neuronal loss; the course can be relapsing-remitting or progressive.
Kaushik, M, Mahajan, SK, Raghav, S, Raina, R, Sharathbabu, NM   +4 more
core  

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Opsoclonus‐Myoclonus‐Ataxia Syndrome Associated with Coexisting Anti‐N‐Methyl‐D‐Aspartate Receptor and Glial Fibrillary Acidic Protein Antibodies

Movement Disorders Clinical Practice, EarlyView.
Eriko Igami, Yutaka Oji, Akihiro Yamaguchi, Shin‐ichi Ueno, Yuji Tomizawa, Taiji Tsunemi, Taku Hatano, Nobutaka Hattori   +7 more
wiley   +1 more source

Putamen Atrophy as a Predictive Factor of Efficacy of GPi‐DBS in Dystonia‐Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy

Movement Disorders, EarlyView.
Abstract Background Perinatal hypoxic–ischemic encephalopathy (HIE) is a severe condition resulting from impaired oxygen delivery to the developing brain, often leading to both motor deficits and dystonia‐dyskinetic syndromes (DDS). In selected cases, deep brain stimulation of the globus pallidus internus (GPi‐DBS) may provide a therapeutic option ...
Marylou Grasso, Pierre‐Olivier Moser, Sidonie Sauvageot, Valérie Gil, Emilie Chan‐Seng, Emily Sanrey, Philippe Coubes, Gaëtan Poulen   +7 more
wiley   +1 more source

Severity‐Based and Family‐Centered Approaches to Deep Brain Stimulation in GNAO1‐Related Disorders

Movement Disorders Clinical Practice, EarlyView.
Jana Domínguez‐Carral, Juan Darío Ortigoza‐Escobar   +1 more
wiley   +1 more source

Influence of Hearing Loss on the Efficacy of Customized Music Therapy in Patients With Chronic Tinnitus

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective To investigate the influence of hearing loss on the efficacy of personalized and customized music therapy in patients with chronic tinnitus. Methods A total of 147 patients with chronic tinnitus were included in the research; according to the pure‐tone average (PTA) test results (PTA at 0.5, 1.0, 2.0, and 4.0 kHz), the patients were ...
Dan‐Dan Guo, Yue‐Hong Liu, Si‐Yi Yang, Yu‐Lu Wang, Hong‐Bo Xie, Tian‐Yi Ni, Yun Jiang, Zi‐Yuan Lin, Zhao Han   +8 more
wiley   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Globus pallidus internus-deep brain stimulation for Lance Adams syndrome post-COVID-19: A case report and systematic review

Interdisciplinary Neurosurgery
Objects: Lance Adams syndrome (LAS) is a chronic post-hypoxic myoclonus that predominantly arises following successful cardiopulmonary resuscitation; however, there are so rare instances following respiratory failure.
Amir Reza Bahadori, Parisa Javadnia, Mohammad Amin Fathollahi, Afshan Davari, Sajad Shafiee, Aidine Omidvar, Sara Mohammadian, Sara Ranji, Abbas Tafakhori   +8 more
doaj   +1 more source