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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

SCA15  -  spinocerebellar ataxia 15

Homo sapiens

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Disease relevance of SCA15

  • The candidate region was 14.7 cM flanked by D3S1620 and D3S3691, which was partly overlapping with the locus of SCA15 characterized by pure cerebellar ataxia [1].
  • Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus [2].
 

High impact information on SCA15

  • Haplotype analysis identified recombinants that placed the SCA15 locus within an 11.6-cM region flanked by the markers D3S3630 and D3S1304 [3].
  • Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant [3].
  • Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus [1].
  • CONCLUSION: Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA15 locus on chromosome 3pter [2].
  • This overlaps with the SCA15 locus, with the critical overlapping region between the microsatellite markers, D3S1304 and D3S1620 (approximately 8 cM) [2].
 

Other interactions of SCA15

  • Spinocerebellar ataxia type 15 (SCA15) was first reported in 2001 on the basis of a single large Anglo-Celtic family from Australia, the locus mapping to chromosomal region 3p24.2-3pter [4].

References

  1. Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus. Hara, K., Fukushima, T., Suzuki, T., Shimohata, T., Oyake, M., Ishiguro, H., Hirota, K., Miyashita, A., Kuwano, R., Kurisaki, H., Yomono, H., Goto, J., Kanazawa, I., Tsuji, S. Neurology (2004) [Pubmed]
  2. Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Dudding, T.E., Friend, K., Schofield, P.W., Lee, S., Wilkinson, I.A., Richards, R.I. Neurology (2004) [Pubmed]
  3. Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Knight, M.A., Kennerson, M.L., Anney, R.J., Matsuura, T., Nicholson, G.A., Salimi-Tari, P., Gardner, R.J., Storey, E., Forrest, S.M. Neurobiol. Dis. (2003) [Pubmed]
  4. Spinocerebellar ataxia type 15. Gardner, R.J., Knight, M.A., Hara, K., Tsuji, S., Forrest, S.M., Storey, E. Cerebellum (2005) [Pubmed]
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