Results 151 to 160 of about 325,583 (286)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Improving the Diagnostic Accuracy of Plasma Alzheimer's Disease Biomarkers With Objective and Subjective Cognitive Screening

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Blood‐based biomarkers are increasingly used to identify Alzheimer's disease (AD) pathology and may play an important role in early disease screening and participant selection for clinical trials. However, their performance across stages of cognitive impairment remains unclear. This study examined whether plasma biomarkers differ in
Maryam Abdolmaleki, Leslie S. Gaynor, Dandan Liu, Timothy J. Hohman, Katherine A. Gifford, Henrik Zetterberg, Angela L. Jefferson, Corey J. Bolton   +7 more
wiley   +1 more source

Parkinson Disease Subtype Stability and Eventual Convergence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok, Christina N. Lessov‐Schlaggar, Abdulmunaim M. Eid, Erin R. Foster, Baijayanta Maiti, Hailee Domash, Helen Hwang, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter, Meghan C. Campbell   +10 more
wiley   +1 more source

Conventional Versus Virtual Reality-Based Hess-Lancaster Assessment: Agreement and Repeatability in Ocular Motility Evaluation. [PDF]

J Eye Mov Res
Povedano-Montero FJ, Perales-Serrano Á, León Lobo D, González-Jiménez R, Bernárdez-Vilaboa R, Cedrún-Sánchez JE.   +5 more
europepmc   +1 more source

Refractive and Visual Outcomes in Unilateral Duane Retraction Syndrome: Influence of Ocular Motility. [PDF]

Turk J Ophthalmol
Ünlü BH, Ural Fatihoğlu Ö, Durmaz Engin C, Yaman A, Berk AT.   +4 more
europepmc   +1 more source

Mapping the Social Network Structure and Composition of Black Individuals With Rheumatic and Musculoskeletal Conditions

Arthritis Care &Research, EarlyView.
Objective Our objective was to describe the social networks of Black individuals with rheumatic and musculoskeletal conditions and understand the clustering of health‐related behaviors to inform future community‐based, peer‐led interventions. Methods We used an adapted Personal Network Survey for Clinical Research (PERSNET) to map the personal social ...
Taussia Boadi, Amar Dhand, Leah Santacroce, Neil Pillai, Komel Safdar, Mia T. Chandler, Ariel Childs, Monica Crespo‐Bosque, Gina Curry, Mary Dollear, Alice Eggleston, Daniel Erickson, Dieufort Fleurissaint, Denice Garrett, Gail Granville, Tyler Green, Magdalena Hamielec, Elena Losina, Karen Mancera‐Cuevas, Mary Ann Nelson, Chisa Nosamiefan, Bisola Ojikutu, Tonya S. Roberson, Mary Beth Son, Marie Jacques Toussaint, Michael York, Rosalind Ramsey‐Goldman, Candace H. Feldman   +27 more
wiley   +1 more source

Case Report: Severe QL1706-associated immune-related inflammatory myopathy presenting with respiratory dysfunction, bulbar weakness, ocular motility impairment, and suspected cardiac involvement. [PDF]

Front Oncol
Yu J, Qian D, Wang C, Zheng F.
europepmc   +1 more source

A Scoping Review and Meta‐Analysis of Proportions of Central Nervous System Manifestations Reported in Patients with Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective The objective of this scoping review was to synthesize evidence on the proportion of individuals living with Sjögren's disease who experience central nervous system (CNS) manifestations. Methods We searched MEDLINE (via PubMed) and Embase from 1980 through January 29, 2026, and the ECRI Guidelines Trust from 2020 through January 29, 2026 ...
Arun Varadhachary, Ghaith Noaiseh, Julie Frantsve‐Hawley, Frederick B. Vivino, Jennifer A. McCombe, Shamik Bhattacharyya, E. Sherwood Brown, Andrew R. Carey, Robert Fox, Thomas Grader‐Beck, Janet E. Lewis, Stephen Maitz, Steven Mandel, Astrid Rasmussen, George Sarka, R. Hal Scofield, Daniel J. Wallace, Rochelle Zak, Kristie Cox, Katherine M. Hammitt, Steven Carsons, Nancy Carteron   +21 more
wiley   +1 more source

The coordinate systems in the Hess screen test and the Harms tangent screen test for ocular motility analysis of strabismus: their metrics and relationship. [PDF]

Z Med Phys
Oltrup T, Bende M, Bende T, Leitritz MA, Bartz-Schmidt KU.   +4 more
europepmc   +1 more source