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Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia

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Abstract

Premutations of the fragile-X (FRAXA) gene were thought to have no clinical effects until recent reports of an increased incidence of premature ovarian failure in females and a late-onset neurological disorder in males. These patients were identified from families including typical fragile-X males with a full mutation. By analysing a cohort of patients with neurodegenerative disorders referred for genetic analysis of spinocerebellar ataxia genes, we have found that 3 of 59 males carry the premutation. Our patients extend the phenotype associated with the FRAXA premutation and indicate that it may account for a proportion of undiagnosed neurodegenerative disorders.

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Acknowledgements

This work was funded by the Wellcome Trust. We are grateful to Sarah Ennis for statistical analysis and to Bill Gibb and Nick Dennis for further help.

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Authors and Affiliations

  1. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK

    James Macpherson, Andrew Waghorn & Patricia Jacobs

  2. Wessex Neurological Centre, Southampton General Hospital, Southampton, SO16 6YD, UK

    Simon Hammans

Authors
  1. James Macpherson
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  2. Andrew Waghorn
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  3. Simon Hammans
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  4. Patricia Jacobs
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Correspondence to Patricia Jacobs.

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Macpherson, J., Waghorn, A., Hammans, S. et al. Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum Genet 112, 619–620 (2003). https://doi.org/10.1007/s00439-003-0939-z

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  • DOI: https://doi.org/10.1007/s00439-003-0939-z

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