SCA3: Neurological features, pathogenesis and animal models View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2008-03-26

AUTHORS

Olaf Riess, Udo Rüb, Annalisa Pastore, Peter Bauer, Ludger Schöls

ABSTRACT

The most frequent subtype of autosomal dominant inherited spinocerebellar ataxias is caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. The clinical variability of the phenotype depends on the length of the expanded repeat and the age at onset (and thus indirectly with the repeat size). Anticipation of the phenotype is most frequently associated with repeat expansions in paternal transmission. In this review we describe four clinical subphenotypes and correlate them to the respective repeat expansions. We also provide a detailed description of the neuropathological features. Finally, we discuss the current knowledge on the function of normal and dysfunction of altered ataxin-3 and how this translates to the predicted structure of the protein. More... »

PAGES

125-137

References to SciGraph publications

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  • 1993-07. The gene for Machado–Joseph disease maps to human chromosome 14q in NATURE GENETICS
  • 2000-08-03. Genetic background of apparently idiopathic sporadic cerebellar ataxia in HUMAN GENETICS
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  • 2002-02-25. Identification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration in CELL DEATH & DIFFERENTIATION
  • 1996-06. Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo in NATURE GENETICS
  • 1996-11. Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene in HUMAN GENETICS
  • 2005-03-23. Spinocerebellar ataxias types 2 and 3: degeneration of the precerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum in JOURNAL OF NEURAL TRANSMISSION
  • 2001-06. The genomic structure and expression of MJD, the Machado-Joseph disease gene in JOURNAL OF HUMAN GENETICS
  • 1999-12. Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70 in NATURE GENETICS
  • 2006-11-10. Structure validation of the Josephin domain of ataxin-3: Conclusive evidence for an open conformation in JOURNAL OF BIOMOLECULAR NMR
  • 2001-10-03. VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration in CELL DEATH & DIFFERENTIATION
  • 1995-07. Gametic and somatic tissue–specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1 in NATURE GENETICS
  • 1995-10. Gender equality in Machado–Joseph disease in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s12311-008-0013-4

    DOI

    http://dx.doi.org/10.1007/s12311-008-0013-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1029622523

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/18418689


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