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No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients

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Summary.

Essential tremor (ET) is one of the most common movement disorders. However the pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidences suggested that the ET gene might contain a CAG expanded region. In a cohort of Italian ET patients Repeat Expansion Detection (RED) approach did not demonstrate large CAG expansions. We extended the study towards specific targets: the channel proteins hSKCa3 and CACNL1A4. Direct assessment of CAG stretches within these two genes did not demonstrate any CAG expansion in affected subjects. Also a case-control analysis failed to reveal any evidence of association, thus excluding these genes as a cause of ET.

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Authors and Affiliations

  1. Department of Oncology, Biology and Genetics, and, , , , ,

    S. Pigullo, E. Di Maria & E. Bellone

  2. Department of Neurological Sciences and Vision, University of Genova,, , , , ,

    R. Marchese, A. Assini, F. Ajmar, G. Abbruzzese & P. Mandich

  3. Department of Neurological Sciences, University of Napoli Federico II,, , , , ,

    C. Vitale & P. Barone

  4. Institute of Clinical Neurology, University of Bologna, and, , , , ,

    C. Scaglione & P. Martinelli

  5. Department of Neurosciences, University of Pisa, Italy, , , , , , IT

    U. Bonuccelli

Authors
  1. S. Pigullo
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  2. E. Di Maria
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  3. R. Marchese
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  4. A. Assini
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  5. E. Bellone
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  6. C. Scaglione
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  7. C. Vitale
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  8. U. Bonuccelli
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  9. P. Barone
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  10. F. Ajmar
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  11. P. Martinelli
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  12. G. Abbruzzese
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  13. P. Mandich
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Additional information

Received August 14, 2000; accepted October 23, 2000

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Pigullo, S., Di Maria, E., Marchese, R. et al. No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients. J Neural Transm 108, 297–304 (2001). https://doi.org/10.1007/s007020170075

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  • DOI: https://doi.org/10.1007/s007020170075

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