Results 141 to 150 of about 124,080 (339)

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Clinical and surgical management of holocervical spinal cord ependymomas. [PDF]

, 2019
Background:Spinal ependymomas are rare tumors of the central nervous system, and those spanning the entire cervical spine are atypical. Here, we present two unusual cases of holocervical (C1-C7) spinal ependymomas.
Attiah, Mark, Batzdorf, Ulrich, Churchman, Pedro, Gaonkar, Bilwaj, Macyszyn, Luke, Mckay, Kevin, Moreland, Natalie, Nagasawa, Daniel, Niu, Tianyi, Patel, Kunal, Tucker, Alexander, Van de Wiele, Barbara   +11 more
core  

Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14‐Associated Neurodegeneration: A Case Report and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Rebecca Lindsay, Sangeetha Yoganathan, Wei Kang Lim, Pradeep Krishnan, Asif Doja, Sunita Venkateswaran, Julie Richer, Sara Breitbart, Nicole S.Y. Liang, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky   +11 more
wiley   +1 more source

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

Complex phenotype in an Italian family with a novel mutation in SPG3A. [PDF]

, 2010
Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in ...
ANTENORA, ANTONELLA, BILO, LEONILDA, CRISCUOLO, CHIARA, de Leva M.F., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, Longo D., Pappatà S., PELUSO, SILVIO, QUARANTELLI, MARIO, Santorelli F.M., Tessa A.   +11 more
core  

‘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

Smiling Tremor in a Patient with Essential Tremor

Movement Disorders Clinical Practice, EarlyView.
Justus Chunyu Chen, Talyta Grippe, Yasamin Mahjoub, Galit Kleiner, Robert Chen   +4 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

Analysis of Traditional Chinese Medicine Symptoms in Children with Spastic Cerebral Palsy: A Data Mining Study

Journal of Multidisciplinary Healthcare
Xing Wang,1,2 Fang Pang,3 Xiao-Gang Du2 1M. Kandiah Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Kajang, Selangor, Malaysia; 2Famous TCM Expert Heritage Studio, Xi’an Encephalopathy Hospital Affiliated to Shaanxi University of ...
Wang X, Pang F, Du XG
doaj  

Treatment of spasticity [PDF]

Spinal Cord, 2002
openaire   +2 more sources