Ataxin 10

Clinical significance

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.[5]

Defects in ATXN10 have been associated with Joubert syndrome.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000130638 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. Zu L, Figueroa KP, Grewal R, Pulst SM (Apr 1999). "Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22". Am J Hum Genet. 64 (2): 594–9. doi:10.1086/302247. PMC 1377770. PMID 9973298.
  5. "Entrez Gene: ATXN10 ataxin 10".
  6. Sang L, Miller JJ, Corbit KC, et al. (May 2011). "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways". Cell. 145 (4): 513–28. doi:10.1016/j.cell.2011.04.019. PMC 3383065. PMID 21565611.

Further reading


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