| Familial cerebral cavernous malformation: report of a further Italian family. | |
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MedLine Citation:
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PMID: 19184323 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Serena Nannucci; Francesca Pescini; Anna Poggesi; Laura Ciolli; Maria Cristina Patrosso; Alessandro Marocchi; Domenico Inzitari; Silvana Penco; Leonardo Pantoni |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-01-30 |
Journal Detail:
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Title: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Volume: 30 ISSN: 1590-3478 ISO Abbreviation: Neurol. Sci. Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-03-27 Completed Date: 2009-07-31 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100959175 Medline TA: Neurol Sci Country: Italy |
Other Details:
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Languages: eng Pagination: 143-7 Citation Subset: IM |
Affiliation:
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Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni 85, 50134, Florence, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brain / pathology*, physiopathology Cerebellar Diseases / genetics, pathology, physiopathology Chromosomes, Human, Pair 7 / genetics DNA Mutational Analysis Epilepsy / genetics, pathology, physiopathology Exons / genetics Family Health Female Genetic Markers / genetics Genetic Predisposition to Disease / genetics* Hemangioma, Cavernous, Central Nervous System / genetics*, pathology*, physiopathology Humans Intracranial Hemorrhages / genetics, pathology, physiopathology Italy Male Microtubule-Associated Proteins / genetics* Middle Aged Mutation / genetics* Proto-Oncogene Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 0/KRIT1 protein, human; 0/Microtubule-Associated Proteins; 0/Proto-Oncogene Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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