Results 81 to 90 of about 12,825 (214)

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

The genetic nomenclature of recessive cerebellar ataxias

, 2018
The recessive cerebellar ataxias are a large group of degenerative and metabolic disorders, the diagnostic management of which is difficult because of the enormous clinical and genetic heterogeneity.
Koenig, M., Warrenburg, B.P.C. van de, Synofzik, M., Rossi, M., Marras, C., Klein, C., Anheim, M., Durr, A.   +7 more
core   +2 more sources

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li, Zhi‐Xian Ye, Xuan‐Yu Chen, Liang‐Liang Qiu, Zhi‐li Chen, Yu‐Sen Qiu, Wei Lin, Ru‐Ying Yuan, Xin‐Tong Yu, Chun‐Yu Huang, Xin‐Yuan Chen, Min‐Ting Lin, Jian‐Ping Hu, Wan‐Jin Chen, Ning Wang, Shao‐Bo Yao, Shi‐Rui Gan, Ying Fu   +17 more
wiley   +1 more source

Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2

Scientific Reports
Spinocerebellar ataxia type 2 (SCA2) is a polyglutamine disorder, and variants in its disease protein Ataxin-2 act as modifiers in the progression of Amyotrophic Lateral Sclerosis. There are no reliable molecular biomarkers for SCA2.
Luis E. Almaguer-Mederos, Jana Key, Nesli-Ece Sen, Julia Canet-Pons, Claudia Döring, David Meierhofer, Suzana Gispert-Sánchez, Dany Cuello-Almarales, Dennis Almaguer-Gotay, Lidia M. Osorio-González, Raúl Aguilera-Rodríguez, Jacqueline Medrano-Montero, Georg Auburger   +12 more
doaj   +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

Advances in Therapies of Cerebellar Disorders: Immune-mediated Ataxias

, 2019
:The identification of an increasing number of immune mediated ataxias suggests that the cerebellum is often a target organ for autoimmune insults. The diagnosis of immune mediated ataxias is challenging as there is significant clinical overlap between ...
Marios Hadjivassiliou
core   +1 more source

Fabrication Routes for Ionic Conducting Fiber Strain Sensors

Advanced Engineering Materials, EarlyView.
Ionic conducting fiber strain sensors (ICFSs) offer compliant, textile‐integrable sensing. Thus far, the commercialization of ICFSs has been constrained by fiber fabrication routes. This review provides a fabrication‐centric analysis of ICFSs correlating processing strategies with material properties and scalability.
Leo John Kershaw, Zhanhong Yang, Anne Ladegaard Skov, Magdalena Skowyra   +3 more
wiley   +1 more source

Ataxias in Brazil: 17 years of experience in an ataxia center

Arquivos de Neuro-Psiquiatria
Background Cerebellar ataxias comprise sporadic and genetic etiologies. Ataxia may also be a presenting feature in hereditary spastic paraplegias (HSPs).
Breno Kazuo Massuyama, Maria Thereza Drumond Gama, Thiago Yoshinaga Tonholo Silva, Pedro Braga-Neto, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +5 more
doaj   +1 more source

Ataxias cerebelares hereditárias: do martelo ao gen Hereditary cerebellar ataxias from neurological hammer to genetics [PDF]

, 1997
As heredoataxias constituem grupo complexo de doenças neurodegenerativas hereditárias, para o qual várias formas de classificação clínica e patológica foram propostas com sucesso variável.
Walter Oleschko Arruda, Hélio A. Ghizoni Teive   +1 more
core   +1 more source

Toward Material‐Specific Peptides From in Silico Guided Peptide Engineering to Target PET in the Presence of PS

Advanced Science, EarlyView.
This work presents a computational–experimental strategy to engineer material‐binding peptides toward polymer specificity. Molecular dynamics simulations identified residues driving polystyrene binding, enabling targeted substitutions that greatly reduced polystyrene affinity while preserving PET binding.
Julian Luka, Marian Bienstein, Jonas Berger, Ulrich Schwaneberg   +3 more
wiley   +1 more source