Familial cerebral cavernous malformation: report of a further Italian family

Neurol Sci. 2009 Apr;30(2):143-7. doi: 10.1007/s10072-009-0020-3. Epub 2009 Jan 30.

Abstract

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and may occur as a sporadic or an autosomal dominant condition. Three genes have been identified as causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3, mapping, respectively, on chromosomes 7q, 7p, and 3q. This is a report on an Italian family affected by CCM due to a KRIT1 gene mutation on exon 13. The mother suffered from a cerebellar hematoma and was severely disabled; one son had suffered from intractable seizures and underwent surgery for removal of a cavernous angioma, while another son was asymptomatic. Brain MRI showed CCMs in all patients. This report underlines that a familial form of CCM could be suspected when a patient presents with multiple CCMs; neurologists and neurosurgeons should be aware that genetic testing for these forms is available.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / pathology*
  • Brain / physiopathology
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / pathology
  • Cerebellar Diseases / physiopathology
  • Chromosomes, Human, Pair 7 / genetics
  • DNA Mutational Analysis
  • Epilepsy / genetics
  • Epilepsy / pathology
  • Epilepsy / physiopathology
  • Exons / genetics
  • Family Health
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Hemangioma, Cavernous, Central Nervous System / genetics*
  • Hemangioma, Cavernous, Central Nervous System / pathology*
  • Hemangioma, Cavernous, Central Nervous System / physiopathology
  • Humans
  • Intracranial Hemorrhages / genetics
  • Intracranial Hemorrhages / pathology
  • Intracranial Hemorrhages / physiopathology
  • Italy
  • KRIT1 Protein
  • Male
  • Microtubule-Associated Proteins / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Proto-Oncogene Proteins / genetics*

Substances

  • Genetic Markers
  • KRIT1 Protein
  • KRIT1 protein, human
  • Microtubule-Associated Proteins
  • Proto-Oncogene Proteins