Altered brain white matter structural motor network in spinocerebellar ataxia type 3
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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
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26573
Abstract: This study was undertaken to identify magnetic resonance (MR) metrics that are most sensitive to early changes in the brain in spinocerebellar ataxia type 1 (SCA1) and type 3 (SCA3) using an advanced multimodal MR… read more here.
Keywords: magnetic resonance; clinically meaningful; meaningful magnetic; spinocerebellar ataxia ... 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
Asymmetry of Tremor in Spinocerebellar Ataxia 12‐ Exception or Rule?
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DOI: 10.1002/mdc3.13237
Abstract: Spinocerebellar Ataxia 12(SCA12) is a rare form of SCA, predominantly reported in the ethnic Agarwal population originating from North India. It generally presents with late onset upper limb tremor followed by ataxia. Tremor in SCA12… read more here.
Keywords: spinocerebellar ataxia; exception; sca12; asymmetry ... See more keywords
Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada
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DOI: 10.1002/mdc3.13666
Abstract: Autosomal dominant (AD) spinocerebellar ataxias (SCAs) encompass a large group of rare disorders, which occurs in individuals of different ethnic backgrounds. To date, demographics, and clinical descriptions of AD SCA in Canada are lacking. read more here.
Keywords: dominant spinocerebellar; demographics clinical; characteristics autosomal; spinocerebellar ataxia ... 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
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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
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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
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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
A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS
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DOI: 10.1002/mds.28334
Abstract: The ataxin‐2 (ATXN2) gene contains a cytosine‐adenine‐guanine repeat sequence ranging from 13 to 31 repeats, but when surpassing certain thresholds causes neurodegeneration. Genetic alterations in ATXN2 other than pathological cytosine adenine guanine (CAG) repeats are… read more here.
Keywords: novel duplication; spinocerebellar ataxia; modifier spinocerebellar; duplication atxn2 ... See more keywords
Impact of SARS‐CoV‐2 Infection in Spinocerebellar Ataxia 12 Patients
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DOI: 10.1002/mds.28811
Abstract: Long sessions of coronavirus disease 2019 (COVID-19) lockdown and self-imposed restrictions have created a negative impact on patients with degenerative diseases such as Parkinson’s disease. Similarly, patients with degenerative cerebellar ataxia (CA) are also at… read more here.
Keywords: spinocerebellar ataxia; infection; covid; patients sca12 ... See more keywords