| First Author | Wakamiya M | Year | 2006 |
| Journal | Neurology | Volume | 67 |
| Issue | 4 | Pages | 607-13 |
| PubMed ID | 16924013 | Mgi Jnum | J:222082 |
| Mgi Id | MGI:5643928 | Doi | 10.1212/01.wnl.0000231140.26253.eb |
| Citation | Wakamiya M, et al. (2006) The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology 67(4):607-13 |
| abstractText | BACKGROUND: Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. SCA10 is caused by an expansion of an ATTCT pentanucleotide repeat in intron 9 of the ataxin 10 (ATXN10) gene encoding an approximately 55-kd protein of unknown function. However, how this mutation leads to SCA10 is unknown. METHODS: In an effort to understand the pathogenic mechanism of SCA10, the authors conducted a series of experiments to address the effect of repeat expansion on the transcription and RNA processing of the ATXN10 gene. In addition, we generated Sca10 (mouse ataxin 10 homolog)-null mice and addressed the role of Sca10 gene dosage on the cerebellum. RESULTS: Mutant ATXN10 allele is transcribed at the normal level, and the pre-mRNA containing an expanded repeat is processed normally in patient-derived cells. Sca10-null mice exhibited embryonic lethality. Heterozygous mutants were overtly normal and did not develop SCA10 phenotype CONCLUSION: A simple gain of function or loss of function of ATXN10 is unlikely to be the major pathogenic mechanism contributing to the spinocerebellar ataxia type 10 phenotype. |
