NDLI: Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation.

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Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation.

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Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Dammann, Philipp Hehr, Ute Weidensee, Sabine Zhu, Yuan Gerlach, Rüdiger Sure, Ulrich
Description	Country affiliation: Germany Author Affiliation: Dammann P ( Department of Neurosurgery, University Hospital Essen, Hufelandstrasse 55, 45121, Essen, Germany. philipp.dammann@uk-essen.de)
Abstract	Cerebral cavernous malformations are focal vascular abnormalities that show recurrent intralesional microhemorrhage and may cause focal deficits or seizures in affected patients. These lesions occur in both sporadic and inherited autosomal dominant form. Germline mutations in three different genes have been identified yet. One explanation for the unpredictable individual clinical course with wide variability of the number of developing cerebral cavernous malformations (CCMs) and their rate of progression within CCM families is thought to be based upon a 'two-hit' mechanism. However, the direct influence of a heterozygous underlying germline mutation in combination with secondary somatic mutations on a patient's individual clinical course is hard to investigate in vivo. In this context, we present a rare and interesting case of monozygotic twins heterozygous for the CCM1 germline mutation c.730-1G>A and discuss their similar age and type of disease manifestation and their beginning divergent clinical course.
File Format	HTM / HTML
ISSN	03445607
Issue Number	3
Volume Number	36
e-ISSN	14372320
Journal	Neurosurgical Review
Language	English
Publisher	Springer
Publisher Date	2013-07-01
Publisher Place	Germany
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Neurosurgery Germ-line Mutation Physiology Hemangioma, Cavernous, Central Nervous System Surgery Microtubule-associated Proteins Genetics Neurosurgical Procedures Methods Proto-oncogene Proteins Dna Electroencephalography Female Complications Humans Introns Pedigree Seizures Etiology Twins, Monozygotic Young Adult Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject	Neurology (clinical) Surgery

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