Skip to main content

Advertisement

SpringerLink
Log in

First report of a Tunisian CADASIL patient

  • 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. Federico A, Bianchi S, Dotti MT (2005) The spectrum of mutations for CADASIL diagnosis. Neurol Sci 26:117–124

    Article  PubMed  CAS  Google Scholar 

  2. Dichgans M, Mayer M, Uttner I et al (1998) The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 44:731–739

    Article  PubMed  CAS  Google Scholar 

  3. Retief C, Schutte CM, Baker MK (2009) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). S Afr Med J 99:461–465

    PubMed  Google Scholar 

  4. Lee SJ, Meng H, Elmadhoun O, Blaivas M, Mei-Hwa Wang M (2011) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy affecting an African American man: identification of a novel 15-base pair NOTCH3 duplication. Arch Neurol 68:1584–1586

    Article  PubMed  Google Scholar 

  5. Van Den Boom R, Lesnik Oberstein SA, Van Duinen SG, Bornebroek M, Ferrari MD, Haan J, Van Buchem MA (2002) Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Radiology 224:791–796

    Article  Google Scholar 

  6. Oliveri RL, Muglia M, De Stefano N et al (2001) A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. Arch Neurol 58:1418–1422

    Article  PubMed  CAS  Google Scholar 

  7. Sano Y, Shimizu F, Kawai M et al (2011) p.Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL. Intern Med 50:2833–2838

    Article  PubMed  CAS  Google Scholar 

  8. Ragno M, Cacchiò G, Fabrizi GM et al (2007) Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation. Neurol Sci 28:158–160

    Article  Google Scholar 

Download references

Acknowledgments

We thank Luigino De Dominicis, Eugenio Pucci, and Serena Silvestri for their valuable help in collecting data.

Author information

Authors and Affiliations

  1. Division of Neurology, Mazzoni Hospital, Via degli Iris, 63100, Ascoli Piceno, Italy

    Michele Ragno

  2. Division of Neurology, Macerata Hospital, Macerata, Italy

    Katia Nardi

  3. Department of Radiology, Italian National Research Centres of Aging, INRCA, Ancona, Italy

    Antonio Manca

  4. Department of Experimental and Clinical Medicine, Section of Anatomy, Università Politecnica Delle Marche and Electron Microscopy Unit, School of Medicine, United Hospital, Ancona, Italy

    Manrico Morroni

  5. Department of Psychology, Second University of Naples, Via Vivaldi 43, 81100, Caserta, Italy

    Luigi Trojano

Authors
  1. Michele Ragno
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Katia Nardi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Antonio Manca
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Manrico Morroni
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Luigi Trojano
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to Michele Ragno or Luigi Trojano.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ragno, M., Nardi, K., Manca, A. et al. First report of a Tunisian CADASIL patient. Neurol Sci 34, 1239–1242 (2013). https://doi.org/10.1007/s10072-012-1184-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-012-1184-9

Keywords

Search

Navigation