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

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

2020 ◽  
Vol 244 ◽  
pp. 36-39
Author(s):  
Hanna Algattas ◽  
Hussam Abou-Al-Shaar ◽  
Michael Mendelson ◽  
Georgianne L. Arnold ◽  
James Felker ◽  
...  
Keyword(s):  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Malformation Syndrome ◽  
Familial Cerebral Cavernous Malformation ◽  
True Association

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).

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

scholarly journals Familial cerebral cavernous malformation: clinical case

2020 ◽  
Vol 21 (3) ◽  
pp. 230-234
Author(s):  
Júlia Travkina ◽  
Eva Gödöllová ◽  
Oto Petrík
Keyword(s):  
Clinical Case ◽  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Familial Cerebral Cavernous Malformation

Abstract 196: Polymorphisms in Cerebral Cavernous Malformation Signaling Pathway Genes Associated With Severity of Cerebral Cavernous Malformation Type 1

Stroke ◽  
2015 ◽  
Vol 46 (suppl_1) ◽  
Author(s):  
Hélène Choquet ◽  
Ludmila Pawlikowska ◽  
Jeffrey Nelson ◽  
Charles E McCulloch ◽  
Amy Akers ◽  
...  
Keyword(s):  
Disease Severity ◽  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Neurological Deficits ◽  
Lesion Count ◽  
Large Lesion ◽  
Genes Encoding ◽  
Dominant Disease ◽  
Familial Cerebral Cavernous Malformation

Objective: Familial cerebral cavernous malformation (CCM) is an autosomal dominant disease caused by mutations in CCM1 , CCM2 or CCM3 , and characterized by multiple brain lesions that can lead to intracerebral hemorrhage (ICH), seizures, and neurological deficits. Carriers of the same mutation can manifest variable symptoms and severity of disease, suggesting the influence of modifiers. As the three CCM proteins form a trimeric complex in vitro and interact with many other proteins, we hypothesized that variants in CCM1-2-3 and in other genes encoding proteins involved in CCM signaling modify disease severity, as manifested by ICH and greater total or large lesion counts. Methods: We analyzed 188 Hispanic CCM1 patients harboring the common Hispanic mutation (CHM, CCM1 Q455X). ICH and lesion counts at enrollment were obtained by clinical assessment and MRI. Samples were genotyped on the Affymetrix Axiom Genome-Wide LAT1 Human Array. We analyzed 504 variants (MAF≥1%) within +/- 5kb of 42 genes for association with ICH, total and large (≥5 mm in diameter) lesion counts, adjusting for age, gender and family structure. Results: At baseline, 30.3% of CCM1-CHM patients had a history of ICH. Mean total lesion count was 60.1 ± 115.0 (range 0 to 713). Mean large lesion count was 4.9 ± 8.7 (range 0 to 104). Two NTRK1 variants (rs41267423 and rs1800879) as well as SLMAP rs7621574 and PCDHGA1 rs17097189 were significantly associated with ICH ( P ≤0.014). Suggestive associations with ICH ( P ≤0.05) were observed for additional 15 variants in 11 genes. RAP1GAP rs2625408 was associated with both total and large lesion counts ( P ≤0.004) and additional 4 variants in 4 genes were associated with one of these phenotypes. No single variant was associated with both ICH and total or large lesion count; however, different variants in RAP1GAP and KDR genes were associated with all three phenotypes tested. Conclusions: Variants in genes involved in CCM signaling may contribute to variability in CCM1 disease severity. Genotypes that replicate in other cohorts might be useful as predictors in clinical management.

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