Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51515
Abstract: The aim was to study the evolution of disability in spinocerebellar ataxias (SCAs) type 1, 2, 3, and 6 (SCA1, 2, 3, 6). read more here.
Keywords: evolution disability; disability spinocerebellar; spinocerebellar ataxias;
Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116878
Abstract: BACKGROUND Dysphagia is a common symptom and may be a cause of death in patients with spinocerebellar ataxias (SCAs). However, little is known about at which disease stage dysphagia becomes clinically relevant. Therefore, our study… read more here.
Keywords: dysphagia common; sca; disease stage; disease ... See more keywords
Polyglutamine spinocerebellar ataxias: emerging therapeutic targets
Sign Up to like & getrecommendations! Published in 2020 at "Expert Opinion on Therapeutic Targets"
DOI: 10.1080/14728222.2020.1827394
Abstract: ABSTRACT Introduction Six of the most frequent dominantly inherited spinocerebellar ataxias (SCAs) worldwide – SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 – are caused by an expansion of a polyglutamine (polyQ) tract in the corresponding… read more here.
Keywords: targets polyglutamine; emerging therapeutic; polyglutamine spinocerebellar; therapeutic targets ... See more keywords
Current and emerging treatment modalities for spinocerebellar ataxias
Sign Up to like & getrecommendations! Published in 2022 at "Expert Review of Neurotherapeutics"
DOI: 10.1080/14737175.2022.2029703
Abstract: ABSTRACT Introduction Spinocerebellar ataxias (SCA) are a group of rare neurodegenerative diseases that dramatically affect the lives of affected individuals and their families. Despite having a clear understanding of SCA’s etiology, there are no current… read more here.
Keywords: spinocerebellar ataxias; emerging treatment; current emerging; treatment ... See more keywords
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
Sign Up to like & getrecommendations! Published in 2017 at "Brain"
DOI: 10.1093/brain/awx081
Abstract: Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge… read more here.
Keywords: dominant cerebellar; ataxias; frequency; ataxia ... See more keywords
Roles of Post-translational Modifications in Spinocerebellar Ataxias
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2018.00290
Abstract: Post-translational modifications (PTMs), including phosphorylation, acetylation, ubiquitination, SUMOylation, etc., of proteins can modulate protein properties such as intracellular distribution, activity, stability, aggregation, and interactions. Therefore, PTMs are vital regulatory mechanisms for multiple cellular processes. Spinocerebellar… read more here.
Keywords: modifications spinocerebellar; roles post; post translational; spinocerebellar ataxias ... See more keywords
Current Status of Gene Therapy Research in Polyglutamine Spinocerebellar Ataxias
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22084249
Abstract: Polyglutamine spinocerebellar ataxias (PolyQ SCAs) are a group of 6 rare autosomal dominant diseases, which arise from an abnormal CAG repeat expansion in the coding region of their causative gene. These neurodegenerative ataxic disorders are… read more here.
Keywords: polyglutamine spinocerebellar; gene therapy; spinocerebellar ataxias; therapy ... See more keywords
The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23169169
Abstract: Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominantly inherited progressive disorders with degeneration and dysfunction of the cerebellum. Although different subtypes of SCAs are classified according to the disease-associated causative genes, the clinical… read more here.
Keywords: spinocerebellar ataxias; signaling pathway; role; mglur1 pkc ... See more keywords
Cell-based therapeutic strategies for treatment of spinocerebellar ataxias: an update
Sign Up to like & getrecommendations! Published in 2022 at "Neural Regeneration Research"
DOI: 10.4103/1673-5374.355981
Abstract: Spinocerebellar ataxias are heritable neurodegenerative diseases caused by a cytosine-adenine-guanine expansion, which encodes a long glutamine tract (polyglutamine) in the respective wild-type protein causing misfolding and protein aggregation. Clinical features of polyglutamine spinocerebellar ataxias include… read more here.
Keywords: cell based; cell; spinocerebellar ataxias; therapeutic strategies ... See more keywords
Muscle Cramps Profile among Spinocerebellar Ataxias
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_942_21
Abstract: Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative disorders, with an autosomal dominant inheritance. More than 40 different SCAs have already been identified, and SCA3, SCA2, and SCA1 are the most frequent types.[1] The… read more here.
Keywords: spinocerebellar ataxias; neurology; profile among; muscle cramps ... See more keywords