Spinocerebellar ataxia 2 (SCA2) View Full Text


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Article Info

DATE

2008-04-03

AUTHORS

Isabel Lastres-Becker, Udo Rüb, Georg Auburger

ABSTRACT

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited, neurodegenerative disease. It can manifest either with a cerebellar syndrome or as Parkinson’s syndrome, while later stages involve mainly brainstem, spinal cord and thalamus. This particular atrophy pattern resembles sporadic multi-system-atrophy (MSA) and results in some clinical features indicative of SCA2, such as early saccade slowing, early hyporeflexia, severe tremor of postural or action type, and early myoclonus. For treatment, levodopa is temporarily useful for rigidity/bradykinesia and for tremor, magnesium for muscle cramps, but neuroprotective therapy will depend on the elucidation of pathogenesis. The disease cause lies in the polyglutamine domain of the protein ataxin-2, which can expand in families over successive generations resulting in earlier onset age and faster progression. Genetic testing in SCA2 and other polyglutamine disorders like the well-studied Huntington’s disease is now readily available for family planning. Although these disorders differ clinically and in the affected neuron populations, it is not understood how the different polyglutamine proteins mediate such tissue specificity. The neuronal intranuclear inclusion bodies described in other polyglutamine disorders are not frequent in SCA2. For the quite ubiquitously expressed ataxin-2, a subcellular localization at the Golgi, the endoplasmic reticulum and the plasma membrane, in interaction with proteins of mRNA translation and of endocytosis have been observed. As a first victim of SCA2 degeneration, cerebellar Purkinje neurons may be preferentially susceptible to alterations of these subcellular pathways, and therefore our review aims to portray the particular profile of the SCA2 disease process and correlate it to the specific features of ataxin-2. More... »

PAGES

115-124

References to SciGraph publications

  • 1998-01. Ataxin-2, global regulators and bacterial gene expression, and spliceosomal snRNP proteins share a conserved domain in JOURNAL OF MOLECULAR MEDICINE
  • 2005-01-14. Four distinct classes of proteins as interaction partners of the PABC domain of Arabidopsis thaliana Poly(A)-binding proteins in MOLECULAR GENETICS AND GENOMICS
  • 2003-09. 14-3-3 proteins in the nervous system in NATURE REVIEWS NEUROSCIENCE
  • 1999-07. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases in HUMAN GENETICS
  • 2001-08. Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias – triple-labeling immunofluorescence study in ACTA NEUROPATHOLOGICA
  • 1999-02. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies in ACTA NEUROPATHOLOGICA
  • 1996-11. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats in NATURE GENETICS
  • 1996-11. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT in NATURE GENETICS
  • 2002-03. Cbl–CIN85–endophilin complex mediates ligand-induced downregulation of EGF receptors in NATURE
  • 1999-05. Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients in JOURNAL OF NEUROLOGY
  • 2005-05-19. Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2) in ACTA NEUROPATHOLOGICA
  • 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
  • 1999-09. Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3 in JOURNAL OF NEUROLOGY
  • 2000-09. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human in NATURE GENETICS
  • 1993-07. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1 in NATURE GENETICS
  • 2005-04-18. Glial cell cytoplasmic inclusions in SCA2 do not express α–synuclein in JOURNAL OF NEUROLOGY
  • 1999-06. Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families in JOURNAL OF NEUROLOGY
  • 1996-11. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 in NATURE GENETICS
  • 2003-02. Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3 in JOURNAL OF NEUROLOGY
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    http://scigraph.springernature.com/pub.10.1007/s12311-008-0019-y

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    http://dx.doi.org/10.1007/s12311-008-0019-y

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/18418684


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