Altered brain white matter structural motor network in spinocerebellar ataxia type 3
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51713
Abstract: Spinocerebellar ataxia type 3 is a disorder within the brain network. However, the relationship between the brain network and disease severity is still unclear. This study aims to investigate changes in the white matter (WM)… read more here.
Keywords: network; white matter; brain; ataxia type ... See more keywords
Resting‐state functional connectivity and cognitive dysfunction correlations in spinocerebelellar ataxia type 6 (SCA6)
Sign Up to like & getrecommendations! Published in 2017 at "Human Brain Mapping"
DOI: 10.1002/hbm.23568
Abstract: The aim of this study is to evaluate the correlation between resting state functional MRI (RS‐fMRI) activity and motor and cognitive impairment in spinocerebellar ataxia type 6 (SCA6). read more here.
Keywords: ataxia type; type sca6; state functional; resting state ... See more keywords
A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12401
Abstract: Several neurodegenerative diseases are caused by unstable repeats in DNA. Molecular investigations have revealed that these expansions result in lossor gain-of-protein function and/or RNA toxicity. Typically, the number of repeats influence whether or not a… read more here.
Keywords: ataxia type; spinocerebellar ataxia; huntington disease; disease ... See more keywords
Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges
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DOI: 10.1002/mds.26969
Abstract: The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neuroprotective therapies. Research during the past 3 decades in spinocerebellar ataxia type 2 has revealed a large… read more here.
Keywords: ataxia type; spinocerebellar ataxia; early interventions; prodromal spinocerebellar ... See more keywords
Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders"
DOI: 10.1002/mds.27292
Abstract: Background and Objective: Mitochondrial dysfunction has been implicated in several neurodegenerative diseases. Creatine administration increases concentration of the energy buffer phosphocreatine, exerting protective effects in the brain. We evaluate whether a creatine‐enriched diet would be… read more here.
Keywords: model spinocerebellar; ataxia type; spinocerebellar ataxia; mouse model ... See more keywords
Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders"
DOI: 10.1002/mds.27334
Abstract: Background: Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia. read more here.
Keywords: ataxia type; spinocerebellar ataxia; genotype phenotype; phenotype correlations ... See more keywords
Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24‐week, rater‐blinded, randomized, controlled trial
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders"
DOI: 10.1002/mds.27437
Abstract: Background: Neurorehabilitation has become in a widely used approach in spinocerebellar ataxias, but there are scarce powerful clinical studies supporting this notion. read more here.
Keywords: ataxia type; spinocerebellar ataxia; neurorehabilitation therapy; type week ... See more keywords
Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1314
Abstract: Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare. Clinical features and genetic characteristics of them were seldom studied. read more here.
Keywords: ataxia type; spinocerebellar ataxia; clinical features; genetic characteristics ... See more keywords
The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.719
Abstract: Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited form of ataxia that leads to progressive neurodegeneration. The initial symptoms could affect clinical phenotypes in neurodegenerative diseases, such as Parkinson's disease and amyotrophic lateral sclerosis.… read more here.
Keywords: ataxia type; symptoms phenotypes; spinocerebellar ataxia; initial symptoms ... See more keywords
Spinocerebellar Ataxia Type 1: Molecular Mechanisms of Neurodegeneration and Preclinical Studies.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-71779-1_6
Abstract: Spinocerebellar ataxia type 1 (SCA1) is an adult-onset, inherited disease that leads to degeneration of Purkinje cells of the cerebellum and culminates in death 10-30 years after disease onset. SCA1 is caused by a CAG repeat… read more here.
Keywords: protein; ataxia type; spinocerebellar ataxia; preclinical studies ... See more keywords
Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-8738-6
Abstract: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease involving the cerebellum and characterized by a typical motor syndrome. In addition, the presence of cognitive impairment is now widely acknowledged as a feature… read more here.
Keywords: ataxia type; spinocerebellar ataxia; structural cerebellar; sca2 ... See more keywords