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Research Article

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

  • Seval Türkmen equal contributor,

    equal contributor Contributed equally to this work with: Seval Türkmen, Gao Guo

    Affiliation: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

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  • Gao Guo equal contributor,

    equal contributor Contributed equally to this work with: Seval Türkmen, Gao Guo

    Affiliation: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

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  • Masoud Garshasbi,

    Affiliations: Max Planck Institute for Molecular Genetics, Berlin, Germany, Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

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  • Katrin Hoffmann,

    Affiliation: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

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  • Amjad J. Alshalah,

    Affiliation: University of Babylon, Babylon, Iraq

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  • Claudia Mischung,

    Affiliation: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

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  • Andreas Kuss,

    Affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany

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  • Nicholas Humphrey,

    Affiliation: Centre for Philosophy of Natural and Social Science, London School of Economics, London, United Kingdom

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  • Stefan Mundlos,

    Affiliations: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany

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  • Peter N. Robinson mail

    peter.robinson@charite.de

    Affiliations: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany

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  • Published: May 22, 2009
  • DOI: 10.1371/journal.pgen.1000487

Reader Comments (2)

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Cerebellar Ataxia Associated with Mental Retardation Does Not Lead to Quadrupedalism

Posted by kboycott on 27 May 2009 at 01:39 GMT

As one possibility, we note that ataxia associated with mutations at all three loci is congenital and also associated with mental retardation, which is not generally a feature of other hereditary ataxias, such as Joubert syndrome [25] or AVED [14]. Thus, perhaps it is only when congenital ataxia is coupled to a certain kind of malfunction of the cerebral cortex that individuals are likely to remain walking on all fours.
http://plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000487#article1.body1.sec3.p3

This hypothesis is not supported by the accompanying argument. Mental retardation is a prominent clinical feature of the heterogeneous group of congenital ataxias referred to as Joubert syndrome and Joubert syndrome related disorders, as indicated in the more recent literature (for review see Parisi et al., EJHG 2007; 15:511-21), and this group of conditions has not been associated with quadrupedalism. And while it is true that AVED is not associated with mental retardation or quadrupedalism, it is not a congenital ataxia. Therefore, the conclusion that congenital ataxias associated with cerebral cortex abnormalities might be more likely to lead to quadrupedalism is not justified and it is more likely that environmental factors are a major contributor to this outcome.

No competing interests declared.