ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2007
Molecular pathogenesis of spinocerebellar ataxia type 6.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Article
- The Role of Protein Quantity Control in Polyglutamine Spinocerebellar Ataxias.Cerebellum (London, England) · 2024Review
- Purkinje cell ablation and Purkinje cell-specific deletion of Tsc1 in the developing cerebellum strengthen cerebellothalamic synapses.The Journal of physiology · 2024Article
- Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut.Scientific reports · 2024Article
- Cerebellar contribution to threat probability in a SCA6 mouse model.Human molecular genetics · 2022Article
- Therapeutic Potential of Targeting Regulated Intramembrane Proteolysis Mechanisms of Voltage-Gated Ion Channel Subunits and Cell Adhesion Molecules.Pharmacological reviews · 2022Review
- Activation of TrkB-Akt signaling rescues deficits in a mouse model of SCA6.Science advances · 2022Article
- High-Resolution Structures of KHandbook of experimental pharmacology · 2021Article
- Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.Biomolecules · 2020Review
- Sleep Disorders in Hereditary Ataxias.Current neurology and neuroscience reports · 2019Review
- Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6.Journal of neurology · 2016Article
- 'Medusa-head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII.Journal of neuroinflammation · 2015Review
- The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.Journal of neurology, neurosurgery, and psychiatry · 2015Review
- Paraneoplastic CDR2 and CDR2L antibodies affect Purkinje cell calcium homeostasis.Acta neuropathologica · 2014Article
- Mutational consequences of aberrant ion channels in neurological disorders.The Journal of membrane biology · 2014Review
- Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.Neurologic clinics · 2013Review
- Recent advances in RNA interference therapeutics for CNS diseases.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2013Review
- A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.Human molecular genetics · 2012Article
- Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6.Neurobiology of disease · 2011Article
- Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2011Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by abnormal expansions of a trinucleotide CAG repeat in exon 47 of the CACNA1A gene, which encodes the alpha1A subunit of the P/Q-type voltage-gated calcium channel. The CAG repeat expansion is translated into an elongated polyglutamine tract in the carboxyl terminus of the alpha1A subunit. The alpha1A subunit is the main pore-forming subunit of the P/Q-type calcium channel. Patients with SCA6 suffer from a severe form of progressive ataxia and cerebellar dysfunction. Design of treatments for this disorder will depend on better definition of the mechanism of disease. As a disease arising from a mutation in an ion channel gene, SCA6 may behave as an ion channelopathy, and may respond to attempts to modulate or correct ion channel function. Alternatively, as a disease in which the mutant protein contains an expanded polyglutamine tract, SCA6 may respond to the targets of drug therapies developed for Huntington's disease and other polyglutamine disorders. In this review we will compare SCA6 to other polyglutamine diseases and channelopathies, and we will highlight recent advances in our understanding of alpha1A subunits and SCA6 pathology. We also propose a mechanism for how two seemingly divergent hypotheses can be combined into a cohesive model for disease progression.
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