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3 results

  • Linkage to the CCM2 Locus and Genetic Heterogeneity in Familial Cerebral Cavernous Malformation

  • Nicolas Dupré, Dominique J. Verlaan, Collette K. Hand, Sandra B. Laurent, Gustavo Turecki, W. Jeptha Davenport, Nicola Acciarri, Johannes Dichgans, Akio Ohkuma, Adrian M. Siegel, Guy A. Rouleau
  • Journal:
    Canadian Journal of Neurological Sciences / Volume 30 / Issue 2 / May 2003
    Published online by Cambridge University Press:
    16 December 2016, pp. 122-128
    • Article
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  • Background:

    Cerebral cavernous malformation (CCM) is a form of intracranial vascular disease that may arise sporadically or be dominantly inherited. Linkage studies have revealed genetic heterogeneity among the dominantly inherited forms suggesting the existence of at least three loci called CCM1, CCM2 and CCM3.

    Methods:

    In the present study, we screened five families with dominantly inherited CCM for CCM1 gene mutations with denaturing high performance liquid chromatography (DHPLC). Then, we performed linkage analysis and haplotyping on these five families using highly polymorphic markers at the candidate CCM loci.

    Results:

    None of the five families tested with DHPLC were found to have mutations in the CCM1 gene. Based on haplotyping, we identified three families segregating alleles for CCM2, while two families segregated alleles for CCM3. Using linkage analysis, we could confirm that one family (IFCAS-1) had a positive Lod score of 2.03 (p<0.0001) at the CCM2 locus using marker D7S678.

    Conclusions:

    The present study is the first one to replicate linkage at the CCM2 locus and provides a fifth family identified as such. It also supports the concept of genetic heterogeneity in CCM, identifying four other families that showed no mutations in the CCM1 gene.

  • Chapter 79 - Cavernous malformations

  • from Section 3 - Symptomatic epilepsy
  • Edited by Simon D. Shorvon, Frederick Andermann, Renzo Guerrini
  • Book:
    The Causes of Epilepsy
    Published online:
    05 March 2012
    Print publication:
    14 April 2011, pp 559-564

  • Summary

    The frequency of epilepsy in certain conditions is well known, for example, de novo epilepsy after operative treatment of intracranial abscess is around 70% but this would probably occur independent of the surgical technique used. It seems that craniotomy probably increases the liability of de novo epilepsy by 5-10%. The complexity of the procedure also increases the incidence. Studies of post-traumatic epilepsy with modern imaging techniques have shown the relationship between cortical damage, in particular cortical contusions and post-traumatic epilepsy. The literature on cerebral tumors suggests that late postoperative seizures are more likely to be partial seizures and may be more difficult to control. Antiepileptic drugs (AEDs) are known to be metabolized along established pathways that they may share with other AEDs and also with non-anticonvulsant drugs. Other treatments such as further surgery and adjuvant therapy for intracranial tumors may be useful in treating difficult de novo seizures.