5 Concluding Remarks
As more SCA10 families were identified, the complete phenotypic spectrum is emerging. Central to this spectrum is cerebellar ataxia, with the extracerebellar involvement being variable and dependent on different genetic backgrounds. Perhaps the most exciting and important finding in the studies of SCA10 is the novel mutation of d(ATTCT) repeat expansion which raises several important questions for geneticists. Investigation of how d(ATTCT) repeat expansion arises and maintains the stability in SCA10 families will provide insight into the fundamentals of molecular genetics, such as DNA structures, replication and stability. Equally exciting questions still remain to be answered as to why the cerebellum is particularly susceptible and what the pathogenic mechanism is. Analysis of the primary disease tissue and establishing a mouse model will surely pay off.
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Lin, X., Ashizawa, T. (2006). Recent Progress in Spinocerebellar Ataxia Type 10. In: Fry, M., Usdin, K. (eds) Human Nucleotide Expansion Disorders. Nucleic Acids and Molecular Biology, vol 19. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-33336-3_8
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