Results 151 to 160 of about 3,068 (175)

Long-term outcomes of untreated cerebral cavernous malformations: a prospective, population-based cohort study. [PDF]

Lancet Reg Health Eur
Sandmann ACA, Vandertop WP, White PM, Verbaan D, Coutinho JM, Al-Shahi Salman R, Scottish Audit of Intracranial Vascular Malformations (SAIVMs) Steering Committee.   +6 more
europepmc   +1 more source

Medial temporal lobe cavernous malformation associated with epilepsy misdiagnosed as gastrointestinal disease: A case report. [PDF]

J Int Med Res
Wu Y, Hong S, Zheng L, Chen X, Fan Z, Wu Q, Luo C.   +6 more
europepmc   +1 more source

The familial cerebral cavernous malformation presented with facial paralysis

Dusunen Adam: The Journal of Psychiatry and Neurological Sciences
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Mutations in KRIT1 in Familial Cerebral Cavernous Malformations

Neurosurgery, 2000
The recognition of six unrelated Hispanic-American families in which cerebral cavernous malformations (CCM) segregated as an autosomal dominant trait established a genetic basis for this disease. Linkage analysis subsequently identified locus heterogeneity with disease genes for CCM at chromosomal regions 7q, 7p, and 3q. Recently, mutations in KRIT1, a
J, Zhang, R E, Clatterbuck, D, Rigamonti, H C, Dietz   +3 more
openaire   +2 more sources

Familial cerebral cavernous malformation: report of a further Italian family

Neurological Sciences, 2009
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.
NANNUCCI, SERENA, PESCINI, FRANCESCA, POGGESI, ANNA, L. Ciolli, M. C. Patrosso, A. Marocchi, INZITARI, DOMENICO, S. Penco, PANTONI, LEONARDO   +8 more
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Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation

Surgical Neurology, 2009
Cerebral cavernous malformations are vascular malformations that affect the CNS and have been associated with cutaneous, retinal, and hepatic lesions. Until now, vertebral hemangiomas associated with CCM have been described only in one case. The coexistence of intracranial and spinal cavernous angiomas in familial CCM is extremely rare.
TOLDO, IRENE, DRIGO, PAOLA, MAMMI I, MARINI V, CAROLLO C.   +4 more
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Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation

Neurology, 2021
To identify fetal familial cerebral cavernous malformation (CCM) and a novel variation.A 37-year-old pregnant woman (G4P0) presented with right-handed numbness since 2 weeks at 31 weeks of gestation. Evaluation with brain MRI revealed multiple CCMs. As a result, fetal MRI, fetal whole exome sequencing, and maternal Sanger sequencing were performed.The ...
Dan Cheng, Xiang Shang, Wanli Gao, Frederik Barkhof, Yaou Liu   +4 more
openaire   +3 more sources

Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation

Journal of Neurosurgery: Spine, 2008
Spinal vascular malformations are uncommon lesions, and controversy persists regarding optimal investigation, classification, and treatment strategies. The authors report on a patient with a spinal root arteriovenous malformation (AVM) associated with a parenchymal cavernous malformation (CM) in the same spinal cord segment and describe a complete ...
Jorge Marcondes, De Souza, Flavio S, Domingues, Leila, Chimelli, Judith, Gault   +3 more
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Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes

Journal of Stroke and Cerebrovascular Diseases, 2021
Cerebral cavernous malformations (CCMs) are dilated aberrant leaky capillaries located in the Central Nervous System. Familial CCM is an autosomal dominant inherited disorder related to mutations in KRIT1, Malcavernin or PDCD10. We show two unrelated families presenting familial CCM due to two new mutations in KRIT1 and PDCD10, producing truncated ...
Pablo Iruzubieta, David Campo-Caballero, Jon Equiza, Inés Albajar, Naroa Sulibarría, Raquel Sáez, Naiara Andrés, Elisabet Mondragón, Miren Zulaica, Ana de Arce, Miguel Urtasun, Adolfo López de Munain   +11 more
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Cavernous familial cerebral malformation

2016
Clinical History Image Findings Discussion Find Diagnosis Differential ...
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