Results 81 to 90 of about 7,196 (214)

ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice

, 2012
Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)31. This is thought to mediate toxic gain-of-function by protein aggregation and to affect RNA processing ...
Damrath, Ewa, Joachim Nowock (139049), Azizov, Mekhman, Seifried, Carola, Nowock, Joachim, Rüb, Udo, Suzana Gispert (139045), Udo Rüb (139053), Mekhman Azizov (139047), Auburger, Georg, Mekhman Azizov, Joachim Nowock, Melanie V. Heck (139043), Michael Walter (139055), Walter, Michael, Carola Seifried, Gispert, Suzana, Carola Seifried (139051), Heck, Melanie V., Suzana Gispert, Georg Auburger (139057), Michael Walter, Georg Auburger, Melanie V Heck, Udo Rüb, Ewa Damrath, Ewa Damrath (139041)   +26 more
core   +1 more source

Stem cell therapy for spinocerebellar ataxias: A narrative review

, 2023
Stem cells have proved to be the “wonder treatment” for various genetic diseases and holds great potential for the treatment of numerous, but presently incurable maladies. However, stem cells may not be the answer for all such diseases.
Rakesh Kumar Singh, Divya M Radhakrishnan, Manish Bhartiya, Roopa Rajan, Ayush Agarwal, Achal Kumar Srivastava   +5 more
core   +1 more source

Protocolo de procesamiento de electrooculogramas para la evaluación y el seguimiento de pacientes con Ataxia Espinocerebelosa tipo 2

Informática y Sistemas, 2017
The analysis of eye movements is an useful tool to evaluate various neurological disfunctions, among them is the Spinocerebellar Ataxia Type 2 (SCA2).
Roberto A. Becerra García, Gonzalo Joya Caparros, Luis Velázquez Pérez   +2 more
doaj   +1 more source

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

, 2019
Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative disorders characterized by degeneration of the cerebellum and its connections.
Buijsen, R.A.M., Toonen, L.J.A., Gardiner, S.L., Roon-Mom, W.M.C. van   +3 more
core   +1 more source

Professor Wadia’s contributions to neurology and spinocerebellar ataxia type 2

Arquivos de Neuro-Psiquiatria
The authors present a historical review of the seminal contributions of Professor N. H. Wadia (1925-2016) to neurology, in particular, the first description of spinocerebellar ataxia type 2.
Fernando Spina Tensini, José Luiz Pedroso, Orlando G.P. Barsottini, Hélio A. G. Teive   +3 more
doaj   +1 more source

A Severity‐Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA‐Ataxia

Movement Disorders, EarlyView.
Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease characterized by progressive loss of motor coordination. Objectives We undertook a multisite magnetic resonance imaging study to profile the spatial spread of atrophy across the brain, determine whether atrophy preferentially maps onto specific functional ...
Jason W. Robertson, Isaac Adanyeguh, David J. Arpin, Tetsuo Ashizawa, Benjamin Bender, Fernando Cendes, Xi Chen, Giulia Coarelli, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Jennifer Faber, for the ESMI MR Study Group, Juan Fernandez‐Ruiz, Mónica Ferreira, Marcondes C. França, Sophia L. Göricke, Shuo Han, Thomas Klockgether, Chen Liu, Jun Luo, Alberto R.M. Martinez, Sergio E. Ono, Chiadi U. Onyike, Gülin Öz, for the EUROSCA MR Study Group, Henry Paulson, Jerry L. Prince, Kathrin Reetz, Thiago J.R. Rezende, Matthis Synofzik, Hélio A. Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, David Vaillancourt, Bart van de Warrenburg, Judith van Gaalen, Xingang Wang, Philipp Wegner, Sarah H. Ying, Ian H. Harding, Carlos R. Hernandez‐Castillo   +43 more
wiley   +1 more source

Systematic Review of the Huntington's Disease Drug Development Pipeline, 2014 to 2025

Movement Disorders, EarlyView.
Abstract Background In the past decade, significant advances have improved our understanding of the mechanisms underlying HD pathobiology leading to several putative therapeutic targets for HD. Objective The aim was to describe the Huntington's disease (HD) drug development clinical pipeline.
Pavlina Konstantinova, Jenny Townhill, Juliana Bronzova, Viktoria Andreeva, Swati Sathe, Cristina Sampaio   +5 more
wiley   +1 more source

On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients

Brain Sciences
(1) Background: Spinocerebellar ataxias (SCA) is a term that refers to a group of hereditary ataxias, which are neurological diseases characterized by degeneration of the cells that constitute the cerebellum.
José Alberto Álvarez-Cuesta, Camilo Mora-Batista, Ramón Reyes-Carreto, Frank Jesus Carrillo-Rodes, Sergio J. Torralbaz Fitz, Yanetza González-Zaldivar, Cruz Vargas-De-León   +6 more
doaj   +1 more source