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Neurodegeneration

Switch to the potassium channel

Nature Reviews Neuroscience volume 7, page 330 (2006)Cite this article

SCA can manifest a wide spectrum of motor disorders, such as ataxia, dysarthria and oculomotor abnormalities, and also other neurological symptoms such as cognitive decline, epilepsy and psychiatric disorders. So far, 12 SCA-associated genes have been identified. Although the functions of the majority of these genes are unknown, the causative mutations are mostly in the form of expanded polyglutamine stretches (suggesting protein misfolding and aggregation pathways in disease progression).

Pulst's group had previously characterized a Filipino family with late-onset SCA and, through linkage analysis, showed that the candidate genomic locus was within a 4 cM region on chromosome 19q13. Encouragingly, this 4 cM was within a region previously identified in a French family with early-onset SCA and mental retardation. Using additional genetic markers, the team was able to narrow their search to a region of just 800 kb, which contained ∼40 genes — one was KCNC3. The expression of KCNC3 in Purkinje cells of the cerebellum (involved in motor coordination) made it a prime suspect. And the researchers' suspicions were confirmed when they carried out sequencing analyses and found that the gene was mutated in both families.

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ORIGINAL RESEARCH PAPER

  1. Waters, M. F. et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nature Genet. 26 February 2006 (doi: 10.1038/ng1758)

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Authors
  1. Ruth Williams
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Williams, R. Switch to the potassium channel. Nat Rev Neurosci 7, 330 (2006). https://doi.org/10.1038/nrn1912

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