Results 51 to 60 of about 81,579 (355)

Characteristics of Cerebral Palsy in the Midwestern US

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebral palsy (CP) is the most common lifelong motor disability worldwide. Yet, data is limited on how CP manifests in the US. Our objective was to characterize and determine factors affecting functional outcomes in a large population of young people with CP in the Midwestern US.
Susie Kim, Kelsey Steffen, Lauren Gottschalk‐Henneberry, Jennifer Miros, Amy Robichaux‐Viehoever, Karen Taca, Bhooma R. Aravamuthan   +6 more
wiley   +1 more source

Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta‐analysis

European Journal of Neurology, 2017
The aim of this review was to provide strong clinical evidence of the efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in isolated inherited or idiopathic dystonia.
E. Moro, C. Lereun, J. Krauss, A. Albanese, Jean-Pierre Lin, S. W. Autiero, Thomas C. Brionne, M. Vidailhet   +7 more
semanticscholar   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Non-motor symptoms in patients with isolated dystonia: comparison between the age of onset

Dystonia
Background: The etiology and motor presentation differs between pediatric- and adult-onset dystonia. Emerging evidence has demonstrated that non-motor symptoms are frequent in adult dystonia, which affect the quality of life. By contrast, little is known
Yifan Zhou, Lingbing Wang, Hongxia Li, Yiwen Wu   +3 more
doaj   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Case Report: Bilateral globus pallidum internus DBS for treating tremor and dystonia in spinocerebellar ataxia 17: a thirteen-year follow-up

Dystonia, 2023
Background: Spinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant trinucleotide disorder. There are no effective therapies for addressing the clinical symptoms of SCA17.Case report: We describe a 46-year-old male who presented with symptoms of ...
Aparna Wagle Shukla, Shilpa Chitnis, Irene A. Malaty, Pam Zeilman   +3 more
doaj   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Functional and structural neural bases of task specificity in isolated focal dystonia

Movement Disorders, 2019
Task‐specific focal dystonias selectively affect movements during the production of highly learned and complex motor behaviors. Manifestation of some task‐specific focal dystonias, such as musician's dystonia, has been associated with excessive practice ...
Serena Bianchi, Stefan Fuertinger, Hailey P. Huddleston, S. Frucht, K. Simonyan   +4 more
semanticscholar   +1 more source

Clinical Characteristics and Outcomes of Early‐Onset Versus Late‐Onset LGI1‐Antibody Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Leucine‐rich glioma‐inactivated 1 antibody (LGI1‐Ab) encephalitis predominantly affected older individuals, but has also been reported in younger patients. However, the demographic, clinical, and prognostic characteristics of early‐onset LGI1‐Ab encephalitis have yet to be systematically elucidated. This study aims to systematically
Yu Kong, Shasha Yu, Jing Zhang, Yu Zu, Yujing Zhang, Jing Lv, Xuyang Cao, Xuedan Feng   +7 more
wiley   +1 more source

Non-motor symptoms in dystonia: from diagnosis to treatment

Dystonia, 2023
The Dystonia Medical Research Foundation organized an expert virtual workshop in March 2023 to review the evidence on non-motor symptoms across the spectrum of dystonia, discuss existing assessment methods, need for their harmonisation and roadmap to ...
Kathryn J. Peall, Brian D. Berman, Norbert Bruggemann, Giovanni Defazio, Hortensia Gimeno, H. A. Jinnah, Joel S. Perlmutter, Sarah E. Pirio Richardson, Sarah E. Pirio Richardson, Emmanuel Roze, Emmanuel Roze, Anette Schrag, Michele Tinazzi, Marie Vidailhet, Marie Vidailhet, Aparna Wagle Shukla, Aparna Wagle Shukla, Yulia Worbe, Yulia Worbe, Jan K. Teller, Davide Martino   +20 more
doaj   +1 more source