Spinocerebellar Ataxia Type 27 Patient with a New Mutational Locus: A Case Report-Supplementary File
, 2022 Supplementary files of the manuscript Spinocerebellar Ataxia Type 27 Patient with a New Mutational Locus: A Case Report, which contains 3 videos: Sup. 1 physical examination-1, Sup. 2 physical examination-2, Sup.
Rong, Zhang
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, 2022 This book is about spinocerebellar ataxia (SCA), which is among the most challenging pathologies in the neurological landscape. It covers basic concepts, functional classification, and new approaches to medical and non-medical treatment including ...
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A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. [PDF]
, 2019 Spinocerebellar ataxias is an umbrella term for clinically- and neuropathologically-heterogeneous early-onset hereditary neurodegenerative diseases affecting several dog breeds.
Elisabeth Dietschi +20 more
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A Case of Genetically Confirmed Spinocerebellar Ataxia Type 8 [PDF]
, 2008 Spinocerebellar ataxia type 8 patients typically have a slowly progressive, adult-onset ataxia. SCA8 is characterized by relatively pure cerebellar ataxia, which is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21.
이명식
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Novel mutation in exon11 of PRKCG (SCA14): A case report
Frontiers in Genetics, 2023 Introduction:PRKCG mutations have been implicated in the pathogenesis of spinocerebellar ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar degeneration, dysarthria, and nystagmus.
Rong Sun +4 more
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Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content [PDF]
, 2011 Dynamic expansions of toxic polyglutamine (polyQ)-encoding CAG repeats in ubiquitously expressed, but otherwise unrelated, genes cause a number of late-onset progressive neurodegenerative disorders, including Huntington disease and the spinocerebellar ...
Darren G. Monckton +9 more
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Glycine Transporter Blockade Ameliorates Motor Ataxia in a Mouse Model of Spinocerebellar Atrophy
Journal of Pharmacological Sciences, 2009 Ataxic movement, the common major symptom of spinocerebellar atrophy, has been considered to involve impaired glutamatergic excitatory neurotransmission in the cerebellum.
Mitsuo Tanabe +3 more
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Novel cell models for the study of spinocerebellar ataxia type 7 pathogenesis and therapy in a South African patient cohort [PDF]
, 2012 Includes abstract.Includes bibliographical references.Spinocerebellar ataxia type 7 (SCA7) is a dominantly-inherited neurodegenerative disease, resulting from a CAG trinucleotide repeat expansion in the ataxin-7 gene.
Watson, Lauren
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Recurrent postoperative delirium in spinocerebellar ataxia type 2: a case report
Journal of Medical Case Reports, 2019 Background Postoperative delirium is a relatively uncommon condition in middle aged patients, but very widespread in patients with psychiatric and neurological diseases undergoing general anesthesia.
Laura Levantesi +3 more
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