Results 161 to 170 of about 3,068 (175)

CCM1 gene mutations in families segregating cerebral cavernous malformations

Neurology, 2001
Cerebral cavernous malformations (CCM) are vascular anomalies, sometimes inherited as an autosomal dominant trait, which can cause strokes and seizures. Recently, mutations of the CCM1 gene (chromosome 7q) have been found in a subset of families. The authors found 10 new mutations by screening 29 families and five seemingly sporadic cases of CCM.
W J, Davenport, A M, Siegel, J, Dichgans, P, Drigo, I, Mammi, P, Pereda, N W, Wood, G A, Rouleau   +7 more
openaire   +2 more sources

Review of familial cerebral cavernous malformations and report of seven additional families

American Journal of Medical Genetics Part A, 2016
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss‐of‐function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and ...
de Vos, Ivo J. H. M., Vreeburg, Maaike, Koek, Ger H., van Steensel, Maurice A. M.   +3 more
openaire   +3 more sources

Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations

Journal of Molecular Neuroscience, 2015
Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10.
SCIMONE, CONCETTA, BRAMANTI, Placido, RUGGERI, ALESSIA, Katsarou, Zoe, Donato, Luigi, SIDOTI, Antonina, D'ANGELO, Rosalia   +6 more
openaire   +3 more sources

Cerebral cavernous malformations. Incidence and familial occurrence.

The New England journal of medicine, 1988
We studied 24 patients with histologically verified cerebral cavernous malformations, reviewing the familial occurrence and presenting signs, symptoms, and radiographic features of the disorder. Eleven patients had no evidence of a heritable trait and had negative family histories.
D, Rigamonti, M N, Hadley, B P, Drayer, P C, Johnson, K, Hoenig-Rigamonti, J T, Knight, R F, Spetzler   +6 more
openaire   +1 more source

Lingual Seizures Due to Familial Cerebral Cavernous Malformations

Pediatric Neurology, 2021
Chethan K. Rao, Raj D. Sheth
openaire   +2 more sources

Familial Cerebral Cavernous malformation Syndrome: A Silent Threat

2018
Clinical History Image Findings Discussion Find Diagnosis Differential ...
openaire   +1 more source

[Hereditary cerebral cavernous malformations: analysis of 12 families].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko, 2012
Familial (hereditary) cerebral cavernous malformations (CCM) are rare disorders, they have autosomal-dominant type of inheritance. We report 12 families of non-Hispanic descent in which 54 typical CCM were discovered. In 8 families CCM were identified in 2 generations, in 2 - in 3 generations. 46 lesions were supratentorial, 8 - subtentorial.
O B, Belousova, A N, Konovalov, D N, Okishev, O B, Sazonova, A Iu, Shamov   +4 more
openaire   +1 more source

Familial cerebral cavernous malformations

2021
null Marc C. Mabray, MD, null Blaine L. Hart, MD, null Kwasi Addae-Mensah, BSC, MD, null Ali Salehpoor   +3 more
openaire   +1 more source

Tobacco use increases lesion burden in familial cerebral cavernous malformation syndrome

Journal of Clinical Neuroscience
Familial cerebral cavernous malformation (CCM) syndrome is characterized by multiple, non-contiguous cavernous malformations. The lesion burden may affect morbidity. Our aim was to identify risk factors for high lesion burden in these patients.Patients with radiologically confirmed CCM were screened between 2015 and 2023.
K D, Flemming, K, Wicker, G, Lanzino
openaire   +2 more sources

Cherry angiomas associated with familial cerebral cavernous malformations

Journal of Neurosurgery, 2002
Richard E, Clatterbuck, Daniele, Rigamonti   +1 more
openaire   +2 more sources