Results 101 to 110 of about 71,305 (285)

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

Movement Disorders, EarlyView.
Abstract Background Allan‐Herndon‐Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X‐linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation.
Fabio Bruschi, Ylenia Vaia, Clara E. Antonello, Marco Spada, Francesco Porta, Cristina Marinaccio, Claudia Carducci, Thomas Opladen, Jacopo Sartorelli, Federica Maria Zibordi, Daniele Ghezzi, Francesco Nicita, Davide Tonduti   +12 more
wiley   +1 more source

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders

Muscles
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive ...
Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +18 more
doaj   +1 more source

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, EarlyView.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

Muscle spasticity [PDF]

Anaesthesia, 1990
openaire   +2 more sources

Reply: “Leigh Syndrome Due to the Variant c.1019T>C in COX15”

Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris, Sangeetha Yoganathan, Marcus N. Callister, Liali Aljouda, Vivek Pai, Pradeep Krishnan, Andrea LeBlanc Miller, Christos Ganos, Carolina Gorodetsky   +8 more
wiley   +1 more source

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

The Investigation of Genetic and Clinical Features in Patients with Hereditary Spastic Paraplegia in Central-Southern China [PDF]

, 2020
Chen Wang, Yunjian Zhang, Cihao Xu, De Li, Zhijun Liu, Yan Wu   +5 more
openalex   +1 more source

Selective Tibial Neurotomy for Spastic Equinovarus Foot: Operative Technique [PDF]

, 2023
Jasmine A. Thum, Stanley Bazarek, Margaret Sten, Gabriel Friedman, Ross Mandeville, Justin M. Brown   +5 more
openalex   +1 more source

Early Detection of Neuroinflammation and White Matter Damage Following Dorsal Spinal Nerve Root Sectioning in a Nonhuman Primate Model

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose Dorsal rhizotomy, or spinal dorsal nerve root lesioning, is a surgical procedure used to treat intractable nerve pain by selectively severing sensory afferent nerve roots. This study aimed to evaluate whether multiparametric MRI, including diffusion tensor imaging (DTI), quantitative magnetization transfer (qMT), chemical exchange ...
Feng Wang, John C. Gore, Li Min Chen
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