Skip to main content

Advertisement

SpringerLink
Log in

A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL

  • Letter to the Editor
  • Published:
Neurological Sciences Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssière C, Cruaud C, Maciazek J, Weissenbach J, Bousser MG, Bach JF, Tournier-Lasserve E (1997) Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 350(9090):1511–1515

    Article  PubMed  CAS  Google Scholar 

  2. Oki K, Nagata E, Ishiko A, Shimizu A, Tanaka K, Takahashi K, Tabira T, Katayama T, Suzuki N (2007) Novel mutation of the Notch3 gene in a Japanese patient with CADASIL. Eur J Neurol 14(4):464–466

    Article  PubMed  CAS  Google Scholar 

  3. Valenti R, Poggesi A, Pescini F, Inzitari D, Pantoni L (2008) Psychiatric disturbances in CADASIL: a brief review. Acta Neurol Scand 18(5):291–295

    Article  Google Scholar 

  4. Dotti MT, Federico A, Mazzei R, Bianchi S, Scali O, Conforti FL, Sprovieri T, Guidetti D, Aguglia U, Consoli D, Pantoni L, Sarti C, Inzitari D, Quattrone A (2005) The spectrum of NOTCH3 mutations in 28 Italian CADASIL famiglie. J Neurol Neurosurg Psychiatry 76:736–738

    Article  PubMed  CAS  Google Scholar 

  5. O’Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell JF, Markus HS (2001) MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 56(5):628–634

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy

    C. Ungaro, P. Servillo, Rosalucia Mazzei, F. L. Conforti, T. Sprovieri, P. L. Lanza & A. Quattrone

  2. Department of Neurosciences, Psychiatric and Anesthesiological Sciences, University of Messina, Messina, Italy

    C. Ungaro

  3. Neurology Unit, “G. Jazzolino” Hospital, Vibo Valentia, Italy

    D. Consoli

  4. Institute of Neurology, University “Magna Graecia”, Catanzaro, Italy

    A. Quattrone

Authors
  1. C. Ungaro
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. P. Servillo
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rosalucia Mazzei
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. D. Consoli
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. F. L. Conforti
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. T. Sprovieri
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. P. L. Lanza
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. A. Quattrone
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Rosalucia Mazzei.

Additional information

C. Ungaro, P. Servillo contributed equally to this work.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ungaro, C., Servillo, P., Mazzei, R. et al. A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL. Neurol Sci 30, 269–271 (2009). https://doi.org/10.1007/s10072-009-0040-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-009-0040-z

Keywords

Search

Navigation