Results 151 to 160 of about 79,478 (306)

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

The Pain in Dystonia Scale (PIDS)—Validation in Craniofacial and Upper Limb Dystonia

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Pain is one of the most disabling non‐motor symptoms in adult‐onset isolated dystonia (AOID). The Pain in Dystonia Scale (PIDS) was developed and validated in cervical dystonia. Its applicability to other focal subtypes remains unknown.
Veronica Bruno, Vittorio Velucci, Beatrice Achen, Marcello Mario Mascia, Antonella Muroni, Daniele Belvisi, Francesco Marchet, Laura Avanzino, Francesca Di Biasio, Roberto Erro, Cristiano Sorrentino, Lucio Marinelli, Flavio Villani, Antonio Pisani, Francesca Valentino, Angelo Fabio Gigante, Anna Castagna, Francesco Bono, Giovanni Cossu, Carlo Alberto Artusi, Carmen Terranova, Martina Petracca, Nicola Tambasco, Giovanni Defazio, Davide Martino   +24 more
wiley   +1 more source

Childhood-Onset Myoclonus-Dystonia Due to <i>KCTD17</i> Mutation: A Case Report and Review of Diagnostic Challenges. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Lin Y, Aoh Y, Lu MK.
europepmc   +1 more source

Clinical efficacy of neuromodulation in isolated dystonia: A systematic review of motor function improvement. [PDF]

Neurol Sci
Carta D, Lo Buono V, Culicetto L, Bertino S, Terranova C, Formica C, Quartarone A, Marino S.   +7 more
europepmc   +1 more source

Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law, Shanie Desrosiers, Sinthiya Sivanesan, Helga Tonkov, Frédéric Charron, Frédéric Bretzner, Myriam Srour, Dorothy Barthélemy   +7 more
wiley   +1 more source

Deep Brain Stimulation and Pregnancy: A Case Report and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Verónica Cabreira, Maria José Rosas
wiley   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Beyond <i>SGCE</i>: expanding the clinical and molecular spectrum of <i>KCTD17</i>- and <i>KCNN2</i>-related myoclonus-dystonia. [PDF]

Front Neurol
Krygier M, Sitek EJ, Chylińska M, Ziętkiewicz S, Zawadzka M, Dulski J, Schinwelski M, Kostrzewa G, Wierzba J, Płoski R, Zech M, Mazurkiewicz-Bełdzińska M.   +11 more
europepmc   +1 more source

Holmes Tremor with Dystonia after Parietal and Premotor Ischemic Stroke in an Essential Tremor Patient: A Case Report

Movement Disorders Clinical Practice, EarlyView.
Luca Angelini, Rick C.G. Helmich
wiley   +1 more source

Long-term relief of CRPS-associated limb dystonia with ketamine infusion. [PDF]

BMJ Case Rep
AlZahrani A, Weber-Adrian D, Ong MC.
europepmc   +1 more source