{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T19:46:29Z","timestamp":1694720789950},"reference-count":19,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,9]]},"abstract":"<jats:p content-type=\"fine-print\">\u2713 Recently, several groups of authors have described mutations in the <jats:italic>Krevyl interaction\u2014trapped 1 (KRIT1)<\/jats:italic> gene in families in whom cerebral cavernous malformations (CCMs) are present. In a number of French kindreds harboring familial CCMs, cutaneous as well as cerebral manifestations of this autosomal-dominant disorder were demonstrated. Involvement of other tissues has been poorly described. The authors present the proband, in an affected family with a previously reported <jats:italic>KRIT1<\/jats:italic> mutation, in whom vertebral hemangiomas in addition to cerebral and cutaneous lesions were found. One of the vertebral lesions was associated with a large cutaneous lesion. This combination of vertebral and overlying cutaneous lesions suggests segmental disease expression as the result of a second hit during development, implying loss of function as the relevant molecular pathogenic mechanism. This case illustrates that tissue involvement outside the nervous system must be considered when treating patients with familial CCMs.<\/jats:p>","DOI":"10.3171\/spi.2002.97.2.0227","type":"journal-article","created":{"date-parts":[[2009,5,7]],"date-time":"2009-05-07T15:52:47Z","timestamp":1241711567000},"page":"227-230","source":"Crossref","is-referenced-by-count":3,"title":["Vertebral hemangiomas associated with familial cerebral cavernous malformation: segmental disease expression"],"prefix":"10.3171","volume":"97","author":[{"given":"Richard E.","family":"Clatterbuck","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Gailloud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kieran","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Rigamonti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1","series-title":"Neurology","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1212\/WNL.56.4.540","article-title":"CCM1 gene mutations in families segregating cerebral cavernous malformations.","volume":"56","author":"Davenport","year":"2001"},{"key":"b2","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"702","DOI":"10.3171\/jns.1991.75.5.0702","article-title":"An analysis of the natural history of cavernous angiomas.","volume":"75","author":"Del Curling","year":"1991"},{"key":"b3","series-title":"Ann Neurol","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1002\/ana.410210609","article-title":"Familial cavernous malformations of the central nervous system and retina.","volume":"21","author":"Dobyns","year":"1987"},{"key":"b4","series-title":"Hum Mol Genet","doi-asserted-by":"publisher","first-page":"1351","DOI":"10.1093\/hmg\/9.9.1351","article-title":"KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.","volume":"9","author":"Eerola","year":"2000"},{"key":"b5","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1002\/ajmg.1320420319","article-title":"Terminal transverse limb defects associated with familial cavernous angiomatosis.","volume":"42","author":"Filling-Katz","year":"1992"},{"key":"b6","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"820","DOI":"10.3171\/jns.1995.83.5.0820","article-title":"The natural history of cerebral cavernous malformations.","volume":"83","author":"Kondziolka","year":"1995"},{"key":"b7","series-title":"Ann Neurol","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1002\/1531-8249(199902)45:2<250::AID-ANA17>3.0.CO;2-V","article-title":"An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.","volume":"45","author":"Labauge","year":"1999"},{"key":"b8","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1038\/13815","article-title":"Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.","volume":"23","author":"Laberge-le Couteulx","year":"1999"},{"key":"b9","series-title":"Neurosurgery","first-page":"1166","article-title":"The natural history of cavernous malformations: a prospective study of 68 patients.","volume":"44","author":"Moriarity","year":"1999"},{"key":"b10","series-title":"Neurochirurgie","first-page":"82","article-title":"[131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies.]","volume":"35","author":"Otten","year":"1989"},{"key":"b11","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"190","DOI":"10.3171\/jns.1997.87.2.0190","article-title":"Cerebral cavernous malformations: natural history and prognosis after clinical deterioration with or without hemorrhage.","volume":"87","author":"Porter","year":"1997"},{"key":"b12","series-title":"N Engl J Med","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1056\/NEJM198808113190605","article-title":"Cerebral cavernous malformations. 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