Results 21 to 30 of about 83,390 (218)

Spinocerebellar ataxias: prospects and challenges for therapy development

Nature Reviews Neurology, 2018
Tetsuo Ashizawa, Henry L Paulson
exaly   +2 more sources

Muscle cramps profile among spinocerebellar ataxias [PDF]

Annals of Indian Academy of Neurology, 2022
Gustavo Leite Franklin, Carlos Henrique Ferreira Camargo, Daniel Balaban, João Matheus Marcon, Salmo Raskin, Alex Tiburtino Meira, Hélio Afonso Ghizoni Teive   +6 more
doaj   +2 more sources

Spinocerebellar Ataxia [PDF]

Ophthalmology, 2017
Recent work has demonstrated the importance of miRNAs in the pathogenesis of various brain disorders including the neurodegenerative disorder spinocerebellar ataxia (SCA). This review focuses on the role of miRNAs in the shared pathogenesis of the different SCA types.
Scott Wentz, Denis Jusufbegovic
openaire   +4 more sources

Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies

Biomedicines, 2021
Polyglutamine (polyQ) ataxias are a heterogenous group of neurological disorders all caused by an expanded CAG trinucleotide repeat located in the coding region of each unique causative gene.
Craig S. McIntosh, Dunhui Li, Steve D. Wilton, May T. Aung-Htut   +3 more
doaj   +1 more source

Neuropsychiatric symptoms in spinocerebellar ataxias and Friedreich ataxia.

Neuroscience and Biobehavioral Reviews, 2023
Apart from its role in motor coordination, the importance of the cerebellum in cognitive and affective processes has been recognized in the past few decades.
Karamazovova Simona, Matuskova Veronika, Ismail Zahinoor, Vyhnalek Martin   +3 more
semanticscholar   +1 more source

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

Movement Disorders, 2023
Intronic GAA repeat expansions in the fi broblast growth factor 14 gene ( FGF14 ) have recently been shown to be a common cause of adult-onset degenerative ataxia (spi-nocerebellar ataxia 27B [SCA27B], MIM: 620174), 1,2 but frequencies in strictly ...
H. Hengel, D. Pellerin, C. Wilke, Zofia Fleszar, B. Brais, T. Haack, Andreas Traschütz, L. Schöls, M. Synofzik   +8 more
semanticscholar   +1 more source

Hereditary ataxias: spinocerebellar ataxia type 2 (clinical case)

Актуальные проблемы теоретической и клинической медицины, 2022
This article will present a clinical case of a patient with hereditary spinocerebellar ataxia type 2 (SCA-type 2). Spinocerebellar ataxia is a group of hereditary progressive cerebellar ataxias, numbering over 40 subspecies, manifested in the form of ...
I. Em
doaj   +1 more source

Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management.

Parkinsonism & Related Disorders, 2021
This paper reviews and summarizes three main aspects of spinocerebellar ataxias (SCA) in the Asian population. First, epidemiological studies were comprehensively reviewed.
Teije H. van Prooije, N. Ibrahim, S. Azmin, Bart van de Warrenburg   +3 more
semanticscholar   +1 more source

Rehabilitation in patients with cerebellar ataxias

Arquivos de Neuro-Psiquiatria, 2022
Cerebellar ataxias comprise a heterogeneous group of diseases characterized by motor and non-motor symptoms, which can be acquired, degenerative, or have a genetic cause, such as spinocerebellar ataxias (SCA).
Hsin Fen Chien, Marise Bueno Zonta, Janini Chen, Giovana Diaferia, Celiana Figueiredo Viana, Hélio Afonso Ghizoni Teive, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +7 more
doaj   +1 more source

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

European Journal of Neurology, 2023
Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B).
Pablo Iruzubieta, D. Pellerin, A. Bergareche, Inés Albájar, E. Mondragón, A. Vinagre, R. Fernández-Torrón, F. Moreno, J. Equiza, D. Campo-Caballero, J. Poza, M. Ruibal, A. Formica, M. Dicaire, M. Danzi, S. Zuchner, I. Croitoru, M. Ruiz, A. Schlüter, C. Casasnovas, A. Pujol, B. Brais, H. Houlden, Adolfo López de Munain, J. Ruiz‐Martinez   +24 more
semanticscholar   +1 more source