Results 51 to 60 of about 4,926 (176)

RAN Translation of the Expanded CAG Repeats in the SCA3 Disease Context

Journal of Molecular Biology, 2020
Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder caused by a CAG repeat expansion in the ATXN3 gene encoding the ataxin-3 protein. Despite extensive research the exact pathogenic mechanisms of SCA3 are still not understood in depth.
Magdalena, Jazurek-Ciesiolka, Adam, Ciesiolka, Alicja A, Komur, Martyna O, Urbanek-Trzeciak, Wlodzimierz J, Krzyzosiak, Agnieszka, Fiszer   +5 more
openaire   +2 more sources

Impaired Lower Limb Proprioception in Spinocerebellar Ataxia Type 3 and Its Affected Factors

Frontiers in Neurology, 2022
BackgroundSpinocerebellar ataxia type 3 (SCA3) is one of the most common hereditary neurodegenerative diseases. Postural control dysfunction is the main symptom of SCA3, and the proprioceptive system is a critical sensory component of postural control ...
Xia-Hua Liu, Zhi-Yong Wang, Ying Li, Hao-Ling Xu, Arif Sikandar, Jun Ni, Shi-Rui Gan   +6 more
doaj   +1 more source

Enhancing the fastness characteristics of weld‐dyed cotton and recycled nylon 6,6 fabrics via sodium alginate and titanium dioxide

Coloration Technology, EarlyView.
Abstract This study investigates a sustainable dyeing and finishing strategy for recycled nylon 6,6 and organic cotton fabrics dyed with weld. Following meta‐mordant dyeing using alum under Natural Organic Dye Standard (NODS)‐compliant conditions, the fabrics were subjected to functional finishing with titanium dioxide as a multifunctional ...
Recep Karadag, Fatma Zehra Engin Sagirli, Abdulkadir Pars   +2 more
wiley   +1 more source

GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia

Clinical Genetics, Volume 110, Issue 3, Page 358-362, September 2026.
GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus, Johannes Lenz, Pauline Ploettner, Patricia Duffek, Jost‐Julian Rumpf, Rami Abou Jamra, John Wiedenhoeft, Denny Popp   +7 more
wiley   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1370-1378, July 2026.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Ataxia espinocerebelar tipo 3 (SCA3)

Revista Neurociências, 2001
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openaire   +2 more sources

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

Tremor and Other Hyperkinetic Movements, 2019
Background: Dystonia is a relatively common feature of spinocerebellar ataxia 3 (SCA3). Childhood onset of SCA3 is rare and typically associated with either relatively large, or homozygous, CAG repeat expansions.
Nester Mitchell, Gaynel A. LaTouche, Beverly Nelson, Karla P. Figueroa, Ruth H. Walker, Andrew K. Sobering   +5 more
doaj   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1452-1466, July 2026.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Spinocerebellar Ataxia 3 (SCA3) Patient with Peripheral Neuropathy

Majalah Kedokteran Bandung, 2022
Spinocerebellar ataxia (SCA) 3 is a neurodegenerative disease which involves cerebellum and extra cerebellum. Neuropathy in SCA3 manifests in various ways, including axonal and demyelination lesions in sensory and motor nerves. There has not been any study that describes the peripheral neuropathy characteristics of SCA3 patients in Indonesia at the ...
Siti Aminah Sobana, Iin Pusparini, Nushrotul Lailiyya, Ahmad Rizal Ganiem, Uni Gamayani, Yusuf Wibisono, Fathul Huda, Yunia Sribudiani, Tri Hanggono Achmad   +8 more
openaire   +2 more sources

Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado–Joseph Disease Presenting as Charcot–Marie–Tooth Disease: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT We report a 60‐year‐old Chinese woman with Machado–Joseph disease (MJD/SCA3), initially managed as Charcot–Marie–Tooth disease due to distal sensory loss, pes cavus, and areflexia. Later cerebellar, bulbar, and ocular signs, together with ATXN3 CAG expansion, clarified the diagnosis and highlighted the need to revisit atypical hereditary ...
Enoch Chi Ngai Lim, Chi Eung Danforn Lim
wiley   +1 more source