Results 121 to 130 of about 13,652 (256)

Patient Burden in Dystonia Diagnosis and Botulinum Toxin Treatment: A Nationwide Survey in Turkey

Brain and Behavior
Background Understanding real‐world experiences is crucial in determining the potential gaps in patient‐centered healthcare in dystonia. We explored the challenges of people with dystonia (PwD) at the stages of diagnosis and botulinum neurotoxin (BoNT ...
Rezzak Yilmaz, Nevra Öksüz, Mustafa Ceylan, Bedia Samanci, Ahmet Acarer, Nazlı Durmaz Çelik, Hacer Erdem Tilki, Serhat Özkan, Haşmet Hanağası, Okan Dogu, M. Cenk Akbostancı   +10 more
doaj   +1 more source

A New Phenotype–Genotype Correlation for FIG4 and Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Iro Boura, Panayiotis Mitsias, Sofia Erimaki, Efrosini Papadaki, Cleanthe Spanaki   +4 more
wiley   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

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

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

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

An Unusual Motor OFF in Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Shreyashi Jha, Mandar S. Jog
wiley   +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

Neuroacanthocytosis: A Case Report [PDF]

Türk Nöroloji Dergisi, 2006
The patient who had been treated symptomatically with the diagnosis of Huntington Disease was hospitalized in our clinic, got the diagnosis of neuroacanthocytosis with clinical findings and laboratory investigations was discussed in comparison with ...
Mustafa Yılmaz, Füsun Mayda Domaç, Handan Mısırlı, Pınar Topaloğlu, Nuri Yaşar Erenoğlu   +4 more
doaj  

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, EarlyView.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source