Endosomal dysfunction contributes to cerebellar deficits in spinocerebellar ataxia type 6 [PDF]
eLife, 2023 Spinocerebellar ataxia type 6 (SCA6) is a rare disease that is characterized by cerebellar dysfunction. Patients have progressive motor coordination impairment, and postmortem brain tissue reveals degeneration of cerebellar Purkinje cells and a reduced ...
Anna A Cook +5 more
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Spinocerebellar ataxia type 6 in eastern India: Some new observations [PDF]
Annals of Indian Academy of Neurology, 2016 Introduction: Spinocerebellar ataxias (SCAs) are hereditary, autosomal dominant progressive neurodegenerative disorders showing clinical and genetic heterogeneity. They are usually manifested clinically in the third to fifth decade of life although there
Kalyan B Bhattacharyya +10 more
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Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut [PDF]
Scientific ReportsThis study emphasizes the benefits of open-source software such as DeepLabCut (DLC) and R to automate, customize and enhance data analysis of motor behavior.
Dennis Piotrowski +3 more
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Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6 [PDF]
Scientific Reports, 2017 Early detection of the behavioural deficits of neurodegenerative diseases may help to describe the pathogenesis of such diseases and establish important biomarkers of disease progression.
Muriel T. N. Panouillères +7 more
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Loss of Flocculus Purkinje Cell Firing Precision Leads to Impaired Gaze Stabilization in a Mouse Model of Spinocerebellar Ataxia Type 6 (SCA6) [PDF]
Cells, 2022 Spinocerebellar Ataxia Type 6 (SCA6) is a mid-life onset neurodegenerative disease characterized by progressive ataxia, dysarthria, and eye movement impairment.
Hui Ho Vanessa Chang +3 more
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Impaired Spatio-Temporal Predictive Motor Timing Associated with Spinocerebellar Ataxia Type 6. [PDF]
PLoS ONE, 2016 Many daily life activities demand precise integration of spatial and temporal information of sensory inputs followed by appropriate motor actions. This type of integration is carried out in part by the cerebellum, which has been postulated to play a ...
Robin Broersen +9 more
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A refractory head tremor appearing after volatile anesthesia combined with epidural anesthesia in a patient with spinocerebellar ataxia type 6 [PDF]
JA Clinical Reports, 2018 A 64-year-old female patient with spinocerebellar ataxia type 6 was referred to our department for pancreatic cancer and anesthetized with volatile anesthesia combined with epidural anesthesia for pancreaticoduodenectomy.
Takaya Nishida, Masayori Nakajima
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Polyglutamine length-dependent toxicity from α1ACT in Drosophila models of spinocerebellar ataxia type 6 [PDF]
Biology Open, 2016 Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that results from abnormal expansion of a polyglutamine (polyQ) repeat. SCA6 is caused by CAG triplet repeat expansion in the gene CACNA1A, resulting in a polyQ tract of 19-33 in ...
Wei-Ling Tsou +4 more
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Author Correction: Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6 [PDF]
Scientific Reports, 2018 A correction has been published and is appended to both the HTML and PDF versions of this paper. The error has been fixed in the paper.
Muriel T. N. Panouillères +7 more
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Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis. [PDF]
Mol Genet Genomic MedLong‐read sequencing phased multiple VPS41 variants and established the biallelic configuration in a patient with autosomal recessive spinocerebellar ataxia 29. Transcript analysis revealed distinct allele‐specific splicing abnormalities, while the patient also showed clinical features beyond the typical phenotype.
Nakamura N +17 more
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