Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness

2020 ◽  
Vol 138 ◽  
pp. 535-540.e8 ◽  
Author(s):  
Fabrícia Lima Fontes-Dantas ◽  
Gustavo da Fontoura Galvão ◽  
Elielson Veloso da Silva ◽  
Soniza Alves-Leon ◽  
Cláudia Cecília da Silva Rêgo ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Drug Metabolism ◽  
Genetic Variants ◽  
Mutation Detection ◽  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Familial Cerebral Cavernous Malformation

Familial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy

2021 ◽  
pp. 10.1212/CPJ.0000000000001055
Author(s):  
Mohamed Ridha ◽  
Yasmin Aziz ◽  
Joseph Broderick
Keyword(s):  
Cerebral Amyloid Angiopathy ◽  
Cavernous Malformation ◽  
Pathogenic Mutation ◽  
Cerebral Cavernous Malformation ◽  
Amyloid Angiopathy ◽  
History Of ◽  
Cerebral Amyloid ◽  
Cerebral Microhemorrhages ◽  
Familial Cerebral Cavernous Malformation ◽  
Work Up

A 67-year-old man was referred from ophthalmology for possible cerebral amyloid angiopathy (CAA) discovered during work-up of possible optic neuropathy. MRI (figure 1) demonstrated innumerable periventricular, brainstem, and cortical cerebral microhemorrhages (CMH). Scattered, non-specific white matter hyperintensities was seen on T2-weighted imaging without surrounding hypointense rim. He had no hypertension, and the distribution was uncharacteristic for CAA. Despite absent family history of stroke or seizure, testing for familial cerebral cavernous malformation (FCCM) identified a pathogenic mutation of KRIT1 (c.382G>T).

scholarly journals Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation

2020 ◽  
Vol 182 (5) ◽  
pp. 1066-1072
Author(s):  
Athanasios K. Manole ◽  
Vernon J. Forrester ◽  
Barrett J. Zlotoff ◽  
Blaine L. Hart ◽  
Leslie A. Morrison
Keyword(s):  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Malformation Syndrome ◽  
The Common ◽  
Familial Cerebral Cavernous Malformation

A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene

2020 ◽  
Vol 120 (5) ◽  
pp. 1227-1229 ◽  
Author(s):  
Muhammed Noushad ◽  
Shakya Bhattacharjee ◽  
Stuart J. Weatherby ◽  
Peter Whitefield
Keyword(s):  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Rare Mutation ◽  
Familial Cerebral Cavernous Malformation

scholarly journals Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family

Seizure ◽  
2017 ◽  
Vol 53 ◽  
pp. 72-74
Author(s):  
Inês Rosário Marques ◽  
Francisco Antunes ◽  
Nadine Ferreira ◽  
Miguel Grunho
Keyword(s):  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Familial Cerebral Cavernous Malformation
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