Literature DB >> 1468464

Familial cavernous angiomas of the brain: observations in a four generation family.

E Steichen-Gersdorf1, S Felber, W Fuchs, L Russeger, K Twerdy.   

Abstract

A family with a history of cavernous angiomas of the brain was investigated by MRI. The disease was present in four generations of the family and is consistent with autosomal dominant inheritance. Among affected individuals, there was considerable variability in the extent of intraparenchymal cavernomas and neurological symptoms as a result of bleeding events. Three siblings manifested with seizures, two affected persons were symptom free at the time of investigation, and one sibling had neurological symptoms without certain correlation with cavernomas. The disease appeared to have an earlier onset in younger generations.

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Year:  1992        PMID: 1468464     DOI: 10.1007/bf01957941

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  11 in total

1.  Familial cavernous malformations of the central nervous system and retina.

Authors:  W B Dobyns; V V Michels; R V Groover; B Mokri; J C Trautmann; G S Forbes; E R Laws
Journal:  Ann Neurol       Date:  1987-06       Impact factor: 10.422

2.  Cerebral cavernous malformations. Incidence and familial occurrence.

Authors:  D Rigamonti; M N Hadley; B P Drayer; P C Johnson; K Hoenig-Rigamonti; J T Knight; R F Spetzler
Journal:  N Engl J Med       Date:  1988-08-11       Impact factor: 91.245

3.  Familial occurrence of cavernous angiomata of the brain.

Authors:  J V Clark
Journal:  J Neurol Neurosurg Psychiatry       Date:  1970-12       Impact factor: 10.154

4.  Occult cerebral vascular malformations: high-field MR imaging.

Authors:  J M Gomori; R I Grossman; H I Goldberg; D B Hackney; R A Zimmerman; L T Bilaniuk
Journal:  Radiology       Date:  1986-03       Impact factor: 11.105

Review 5.  The inheritance of epigenetic defects.

Authors:  R Holliday
Journal:  Science       Date:  1987-10-09       Impact factor: 47.728

6.  The site, structure and frequency of intracranial aneurysms, angiomas and arteriovenous abnormalities.

Authors:  R G Berry; B J Alpers; J C White
Journal:  Res Publ Assoc Res Nerv Ment Dis       Date:  1966

7.  Cerebral cavernous haemangiomas or cavernomas. Incidence, pathology, localization, diagnosis, clinical features and treatment. Review of the literature and report of an unusual case.

Authors:  K Voigt; M G Yaşargil
Journal:  Neurochirurgia (Stuttg)       Date:  1976-03

8.  Familial cavernous angiomas: natural history and genetic study over a 5-year period.

Authors:  L A Hayman; R A Evans; R E Ferrell; L M Fahr; P Ostrow; V M Riccardi
Journal:  Am J Med Genet       Date:  1982-02

9.  Intracerebral venous angioma. Case report and review.

Authors:  M Sarwar; W F McCormick
Journal:  Arch Neurol       Date:  1978-05

10.  Familial cavernous angiomas.

Authors:  J M Bicknell; T J Carlow; M Kornfeld; J Stovring; P Turner
Journal:  Arch Neurol       Date:  1978-11
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  7 in total

1.  Familial cavernous malformations in a large French kindred: mapping of the gene to the CCM1 locus on chromosome 7q.

Authors:  L Notelet; F Chapon; S Khoury; K Vahedi; J P Chodkiewicz; P Courtheoux; M T Iba-Zizen; E A Cabanis; B Lechevalier; E Tournier-Lasserve; J P Houtteville
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-07       Impact factor: 10.154

2.  Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.

Authors:  M Günel; I A Awad; J Anson; R P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  1995-07-03       Impact factor: 11.205

3.  Spinal epidural haemangioma associated with extensive gastrointestinal haemangiomas. A case report.

Authors:  L T E Cheng; W E H Lim
Journal:  Interv Neuroradiol       Date:  2005-10-25       Impact factor: 1.610

4.  A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.

Authors:  M S Cigoli; S De Benedetti; A Marocchi; S Bacigaluppi; P Primignani; G Gesu; A Citterio; L Tassi; O Mecarelli; P Pulitano; S Penco
Journal:  J Mol Neurosci       Date:  2015-04-14       Impact factor: 3.444

5.  Familial cavernous hemangioma with atypical neuroimaging.

Authors:  M G Passarin; A Salviati; G Gambina; F Tezzon; G Tomelleri; L Deotto; T Zanoni; P Bovi; M Gerosa; A Nicolato; C Mazza; P Iuzzolino; C Ghimenton; G Ferrari
Journal:  Ital J Neurol Sci       Date:  1996-08

6.  Familial cerebral, hepatic, and retinal cavernous angiomas: a new syndrome.

Authors:  P Drigo; I Mammi; P A Battistella; G Ricchieri; C Carollo
Journal:  Childs Nerv Syst       Date:  1994-05       Impact factor: 1.475

7.  Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

Authors:  Christina L Liquori; Michel J Berg; Adrian M Siegel; Elizabeth Huang; Jon S Zawistowski; T'Prien Stoffer; Dominique Verlaan; Fiyinfolu Balogun; Lori Hughes; Tracey P Leedom; Nicholas W Plummer; Milena Cannella; Vittorio Maglione; Ferdinando Squitieri; Eric W Johnson; Guy A Rouleau; Louis Ptacek; Douglas A Marchuk
Journal:  Am J Hum Genet       Date:  2003-11-17       Impact factor: 11.025

  7 in total

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