Dementia, delusions and seizures: storage disease or genetic AD?

  1. A. Alberici1,2,
  2. C. Bonato3,
  3. B. Borroni2,
  4. M. Cotelli1,
  5. F. Mattioli2,
  6. G. Binetti4,
  7. M. Gennarelli5,
  8. M. D. Luca6,
  9. A. Simonati7,
  10. D. Perani8,
  11. P. Rossini9,
  12. A. Padovani2

Article first published online: 20 AUG 2007

DOI: 10.1111/j.1468-1331.2007.01664.x

Issue

European Journal of Neurology

European Journal of Neurology

Volume 14, Issue 9, pages 1057–1059, September 2007

Additional Information

How to Cite

Alberici, A., Bonato, C., Borroni, B., Cotelli, M., Mattioli, F., Binetti, G., Gennarelli, M., Luca, M. D., Simonati, A., Perani, D., Rossini, P. and Padovani, A. (2007), Dementia, delusions and seizures: storage disease or genetic AD?. European Journal of Neurology, 14: 1057–1059. doi: 10.1111/j.1468-1331.2007.01664.x

Author Information

  1. 1

    Alzheimer Unit, IRCCS – S. Giovanni di Dio-FBF, Brescia, Italy

  2. 2

    Neurological Clinic, University of Brescia, Spedali Civili di Brescia, Italy

  3. 3

    Neurological Clinic, Casa di Cura Pederzoli, Peschiera (VR), Italy

  4. 4

    NeuroBioGen Lab, Neurophysiology Unit, Brescia, Italy

  5. 5

    Genetics Unit, IRCCS – S. Giovanni di Dio-FBF, Brescia, Italy

  6. 6

    Department of Pharmacological Sciences, University of Milan, Milan, Italy

  7. 7

    Neurological Clinic, University of Verona, Verona, Italy

  8. 8

    ‘Vita-Salute’ San Raffaele University and IBFM-CNR, Milan, Italy;

  9. 9

    AFaR-Dip. Neurosci. Osp. FBF, Isola Tiberina, Clinica Neurologica Università Campus Bio-Medico Roma, Rome, Italy

*Antonella Alberici, Department of Neurology, University of Brescia, P.zzale Spedali Civili 1, 25123 Brescia, Italy (tel.: +39 030 3995632; fax: +39 030 3995027; e-mail: antoalberici@yahoo.it).

Publication History

  1. Issue published online: 20 AUG 2007
  2. Article first published online: 20 AUG 2007
  3. Received 7 July 2006 Accepted 28 September 2006

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Keywords:

  • de novo;
  • genetic AD;
  • presenilin;
  • storage disease

We describe a case of a young patient suffering from a rapidly progressive cognitive decline, associated with delusions, myoclonus and seizures and with no family history for dementia. Clinical features, along with skin biopsy findings were overlapping storage disease; the genetic analysis, however, demonstrated a de novo presenilin 1 mutation. The present report suggests the usefulness of genetic determinations in early-onset cases of dementia, even without an autosomal dominant trait of inheritance; for these cases and their relatives an extensive genetic counselling should be recommended.

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