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Gene Review:

SCA16 - spinocerebellar ataxia 16

Homo sapiens

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Disease relevance of SCA16

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1 [1].
From this cluster, pure cerebellar ataxias linked with the SCA4, SCA14, and SCA16 locus have been isolated [2].

High impact information on SCA16

Fifteen genetic loci have been identified (SCA-1-8, SCA-10-14, SCA-16, and SCA-17) and nine of the corresponding genes have been cloned [3].
This mutation was not detected in 520 control subjects; moreover, we revised the phenotype of SCA16 from pure to complicated SCA [4].
RESULTS: We reassigned the locus of SCA16 to 3p26.2-pter (maximum logarithm-of-odds score = 5.177) and identified only one point mutation (4,256C-->T) in the 3' untranslated region of the contactin 4 gene (CNTN4) on chromosome 3p26.2-26.3, which cosegregated with the disease [4].

References

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Miyoshi, Y., Yamada, T., Tanimura, M., Taniwaki, T., Arakawa, K., Ohyagi, Y., Furuya, H., Yamamoto, K., Sakai, K., Sasazuki, T., Kira, J. Neurology (2001) [Pubmed]
The hereditary spinocerebellar ataxias in Japan. Sasaki, H., Yabe, I., Tashiro, K. Cytogenet. Genome Res. (2003) [Pubmed]
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. van de Warrenburg, B.P., Sinke, R.J., Verschuuren-Bemelmans, C.C., Scheffer, H., Brunt, E.R., Ippel, P.F., Maat-Kievit, J.A., Dooijes, D., Notermans, N.C., Lindhout, D., Knoers, N.V., Kremer, H.P. Neurology (2002) [Pubmed]
The contactin 4 gene locus at 3p26 is a candidate gene of SCA16. Miura, S., Shibata, H., Furuya, H., Ohyagi, Y., Osoegawa, M., Miyoshi, Y., Matsunaga, H., Shibata, A., Matsumoto, N., Iwaki, A., Taniwaki, T., Kikuchi, H., Kira, J., Fukumaki, Y. Neurology (2006) [Pubmed]

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