Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Sca13.

M F Waters1, S M Pulst

  • 1Department of Neurology, McKnight Brain Institute, University of Florida College of Medicine, Gainesville, FL 32610, USA. mwaters@neurology.ufl.edu

Cerebellum (London, England)
|July 2, 2008
PubMed
Summary
This summary is machine-generated.

Spinocerebellar ataxia 13 (SCA13) is caused by mutations in the KCNC3 potassium channel. These mutations disrupt channel function, impacting cerebellar neuron activity and potentially leading to this neurodegenerative disorder.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A low-carbohydrate high-fat diet increases weight gain and does not improve glucose tolerance, insulin secretion or β-cell mass in NZO mice.

Nutrition & diabetes·2016
Same author

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Cerebellum (London, England)·2013
Same author

In Vitro Cytotoxic Effects of Dibromodulcitol in 9L Rat Brain Tumor Cells.

Pharmaceutical research·2013
Same author

Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation.

Neurology·2005
Same author

Nitrous oxide inhalation as a cause of cervical myelopathy.

Acta neurologica Scandinavica·2005
Same author

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

Neurology·2005
Same journal

Clinical and Radiological Variability in Episodic Ataxia Type 2: A Case Report and Review of the Literature.

Cerebellum (London, England)·2026
Same journal

Trends and Disparities in Mortality from Hereditary Ataxia in United States, 2000-2020: A Retrospective Analysis with Projections to 2050.

Cerebellum (London, England)·2026
Same journal

Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.

Cerebellum (London, England)·2026
Same journal

Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta-Analysis.

Cerebellum (London, England)·2026
Same journal

Relapsing Seronegative Immune-Mediated Cerebellar Ataxia with Evolving Intrathecal Immune Activation and Rituximab Consolidation in a Toddler: A Case Report.

Cerebellum (London, England)·2026
Same journal

Tumor Expression of Cerebellar Degeneration-Related Protein 2-Like in Rapidly Progressive Cerebellar Syndrome Associated With Oropharyngeal Squamous Cell Carcinoma.

Cerebellum (London, England)·2026
See all related articles

Area of Science:

  • Neurogenetics
  • Molecular Neuroscience
  • Ion Channel Physiology

Background:

  • Spinocerebellar ataxia 13 (SCA13) is a rare, inherited neurodegenerative disorder.
  • Recent research implicates mutations in the voltage-gated potassium channel KCNC3 as the cause of SCA13.
  • SCA13 has been identified in diverse ethnic populations, including French and Filipino pedigrees.

Purpose of the Study:

  • To investigate the functional consequences of KCNC3 mutations identified in SCA13 patients.
  • To elucidate the molecular mechanisms by which KCNC3 alterations lead to cerebellar dysfunction.

Main Methods:

  • Sequence analysis of the KCNC3 gene in affected individuals.
  • Functional characterization of mutated KCNC3 channels using a Xenopus laevis oocyte expression system.

Related Experiment Videos

  • Electrophysiological analysis of channel activity and gating properties.

    • Main Results:

    • Identified specific KCNC3 mutations (R420H in Filipino, F448L in French pedigrees) associated with SCA13.
    • The R420H mutation resulted in a non-functional channel with dominant-negative effects on wild-type KCNC3.
    • The F448L mutation altered channel gating, shifting activation negatively and slowing channel closure.
    • Both mutations are predicted to impair the high-frequency firing capacity of cerebellar neurons.

    Conclusions:

    • Mutations in KCNC3 are definitively causative for Spinocerebellar ataxia 13.
    • The identified KCNC3 channel dysfunctions provide a molecular basis for SCA13 pathogenesis.
    • Understanding these channelopathies is crucial for future therapeutic strategies targeting SCA13.