Results 81 to 90 of about 9,290 (208)

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, Volume 41, Issue 4, Page 928-936, April 2026.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

Resúmenes de los trabajos sobre la atrofia espinocerebelosa

Medisur, 2010
Cuba presenta la mayor prevalencia mundial de Ataxia Espinocerebelosa Tipo 2, con más de 8000 individuos en riesgo de haber heredado la enfermedad, por lo cual el desarrollo de investigaciones y proyectos de investigación para investigar y seguir las ...
Congreso Nacional de Neurolog'ia
doaj   +2 more sources

Ataxias heredodegenerativas [PDF]

, 2013
Descripción de las ataxias heredodegenerativas con énfasis en la semiología general de este tipo de enfermedades y la fisiopatología de los grandes grupos de ataxias.NEURODEGENERATIVE DISEASES NAMED AS ATAXIA CONSTITUTES THE MOST COMMON PATHOLOGY ...
Amaya Sarachaga, Adriana, Pedraza Linares, Olga Lucía   +1 more
core   +1 more source

The Cerebellar Cognitive‐Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal‐Recessive Spastic Ataxia of Charlevoix‐Saguenay: A Large International Cross‐Sectional Study

Movement Disorders, Volume 41, Issue 4, Page 1034-1040, April 2026.
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar ...
Julie Fortin, Matthis Synofzik, Élyse‐Anne Pedneault‐Tremblay, Dominik Hermle, Andreas Thieme, Dagmar Timmann, Roberta La Piana, Bernard Brais, Justine Dolbec, Isabelle Côté, Cynthia Gagnon, Andreas Traschütz   +11 more
wiley   +1 more source

Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8–800 murine model of Friedreich ataxia

Neurobiology of Disease
Friedreich ataxia is a hereditary neurodegenerative disorder resulting from reduced levels of the protein frataxin due to an expanded GAA repeat in the FXN gene.
Andrés Vicente-Acosta, Saúl Herranz-Martín, Maria Ruth Pazos, Jorge Galán-Cruz, Mario Amores, Frida Loria, Javier Díaz-Nido   +6 more
doaj   +1 more source

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich

Arquivos de Neuro-Psiquiatria, 1999
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene.
IDA V.D. SCHWARTZ, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA   +5 more
doaj   +1 more source

Delivery of the 135kb human frataxin genomic DNA locus gives rise to different frataxin isoforms [PDF]

, 2015
© 2015 Elsevier Inc. Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression ...
Díaz-Nido, Javier, Fernández-Frias, I., Giménez-Cassina, Alfredo, Pérez-Luz, S., Wade-Martins, R.   +4 more
core   +1 more source

Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Whole‐exome sequencing candidate CLIC5 and NEFM for cerebellar ataxia (CA) onset. In vivo studies exclude CLIC5, while in silico analysis and literature review support NEFM as a candidate gene for CA. These findings could be useful for advancing the genetic diagnosis of hereditary pure CA. Created in https://BioRender.com.
Paolo Enrico Maltese, Gabriele Bonetti, Elena Manara, Benedetta Tanzi, Andrea Bernini, Mark A. Berryman, Soichi Tanda, Corinne Nielsen, Silvia Casagrande, Amanda Ferrero, Salvatore Stano, Riccardo Zuccarino, Andrea Barp, Pietro Chiurazzi, Matteo Bertelli   +14 more
wiley   +1 more source

Ataxias esporádicas de início no adulto: um desafio diagnóstico [PDF]

, 2014
Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases,
Albuquerque, Marcus Vinicius Cristino De, Barsottini, Orlando Graziani Povoas, Braga Neto, Pedro, Pedroso, José Luiz   +3 more
core   +3 more sources

Comparative (computational) analysis of the DNA methylation status of trinucleotide repeat expansion diseases [PDF]

, 2013
Copyright © 2013 Mohammadmersad Ghorbani et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is ...
Ghorbani, M, Payne, A, Pook, MA, Taylor, SJE   +3 more
core   +4 more sources