scholarly journals Next generation sequencing analysis of patients with familial cervical artery dissection

2017 ◽  
Vol 2 (2) ◽  
pp. 137-143 ◽  
Author(s):  
Caspar Grond-Ginsbach ◽  
Tobias Brandt ◽  
Manja Kloss ◽  
Suna Su Aksay ◽  
Philipp Lyrer ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Candidate Genes ◽  
Allele Frequency ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Connective Tissue Disorders ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Cervical Artery ◽  
Stop Loss

Background The cause of cervical artery dissection is not well understood. We test the hypothesis that mutations in genes associated with known arterial connective tissue disorders are enriched in patients with familial cervical artery dissection. Patients and methods Patient duos from nine pedigrees with familial cervical artery dissection were analyzed by whole exome sequencing. Single nucleotide variants in a panel of 11 candidate genes (ACTA2, MYH11, FBN1, TGFBR1, TGFBR2, TGFB2, COL3A1, COL4A1, SMAD3, MYLK and SLC2A10) were prioritized according to functionality (stop-loss, nonsense, and missense variants with polyphen-2 score ≥0.95). Variants classified as “benign” or “likely benign” in the ClinVar database were excluded from further analysis. For comparison, non-benign stop-loss, nonsense and missense variants with polyphen-2 score ≥0.95 in the same panel of candidate genes were identified in the European non-Finnish population of the ExAC database ( n = 33,370). Results Non-benign Single nucleotide variants in both affected patients were identified in four of the nine cervical artery dissection families (COL3A1; Gly324Ser, FBN1: Arg2554Trp, COL4A1: Pro116Leu, and TGFBR2: Ala292Thr) yielding an allele frequency of 22.2% (4/18). In the comparison group, 1782 variants were present in 33,370 subjects from the ExAC database (allele frequency: 1782/66,740 = 2.7%; p = 0.0008; odds ratio = 14.2; 95% confidence interval = 3.8–52.9). Conclusion Cervical artery dissection families showed enrichment for non-benign variants in genes associated with arterial connective tissue disorders. The observation that findings differed across families indicates genetic heterogeneity of familial cervical artery dissection.

scholarly journals Familial occurrence and heritable connective tissue disorders in cervical artery dissection

Neurology ◽  
2014 ◽  
Vol 83 (22) ◽  
pp. 2023-2031 ◽  
Author(s):  
S. Debette ◽  
B. Goeggel Simonetti ◽  
S. Schilling ◽  
J. J. Martin ◽  
M. Kloss ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Familial Occurrence ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Connective Tissue Disorders ◽  
Cervical Artery ◽  
Heritable Connective Tissue Disorders

Aberrations of dermal connective tissue in patients with cervical artery dissection (sCAD)

2008 ◽  
Vol 255 (3) ◽  
pp. 340-346 ◽  
Author(s):  
P. Uhlig ◽  
P. Bruckner ◽  
R. Dittrich ◽  
E. B. Ringelstein ◽  
G. Kuhlenbäumer ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Cervical Artery ◽  
Dermal Connective Tissue

scholarly journals Extracellular matrix protein signature of recurrent spontaneous cervical artery dissection

Neurology ◽  
2020 ◽  
Vol 95 (15) ◽  
pp. e2047-e2055 ◽  
Author(s):  
Lukas Mayer ◽  
Raimund Pechlaner ◽  
Javier Barallobre-Barreiro ◽  
Christian Boehme ◽  
Thomas Toell ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Quantitative Proteomics ◽  
Matrix Protein ◽  
Extracellular Matrix Protein ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Proteomics Approach ◽  
Cervical Artery ◽  
Patients At Risk ◽  
Protein Signature

ObjectiveTo assess whether connective tissue disorder is evident in patients with spontaneous cervical artery dissection and therefore identify patients at risk of recurrence using a cutting-edge quantitative proteomics approach.MethodsIn the ReSect study, all patients with spontaneous cervical artery dissection treated at the Innsbruck University Hospital since 1996 were invited to attend a standardized clinical follow-up examination. Protein abundance in skin punch biopsies (n = 50) was evaluated by a cutting-edge quantitative proteomics approach (liquid chromatography–mass spectrometry) that has hitherto not been applied to such patients.ResultsPatients with 1-time single-vessel (n = 19) or multiple-vessel (n = 13) dissections did not differ between each other or compared to healthy controls (n = 12) in protein composition. Patients with recurrent spontaneous cervical artery dissection (n = 6), however, showed significantly different expression of 25 proteins compared to the other groups combined. Literature review and Gene Ontology term annotation check revealed that 13 of the differently expressed proteins play a major role in the structural integrity of connective tissue or are linked to connective tissue disorders. These proteins showed clustering to a collagen/elastin cluster and one consisting of desmosome related proteins.ConclusionThis study unravels an extracellular matrix protein signature of recurrent spontaneous cervical artery dissection. In the long run and after large-scale validation, our findings may well assist in identifying patients at risk of recurrent spontaneous cervical artery dissection and thus guide therapy.

Recurrence of cervical artery dissection

Neurology ◽  
2018 ◽  
Vol 90 (16) ◽  
pp. e1372-e1378 ◽  
Author(s):  
Manja Kloss ◽  
Caspar Grond-Ginsbach ◽  
Peter Ringleb ◽  
Ingrid Hausser ◽  
Werner Hacke ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Recurrent Events ◽  
Clinical Symptoms ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Consecutive Series ◽  
Initial Event ◽  
Cervical Artery ◽  
Tissue Abnormalities

ObjectiveTo explore the recurrence of cervical artery dissection (CeAD).MethodsA single-center consecutive series of 282 CeAD patients was prospectively recruited during first admission from 1995 to 2012. Patients with a follow-up of at least 1 year (n = 238) were eligible for the current analysis. All patients with clinical symptoms or signs of recurrent CeAD on ultrasound were examined by MRI. Dermal connective tissue morphology was studied in 108 (45.4%) patients.ResultsMedian follow-up was 52 months (range 12–204 months). In all, 221 (92.8%) patients presented with monophasic CeAD, including 188 (79.0%) patients with a single CeAD event, 11 (4.6%) with simultaneous dissections in multiple cervical arteries, and 22 (9.2%) with subsequent events within a single phase of 4 weeks. Seventeen patients (7.1%) had late (>1 month after the initial event) recurrent CeAD events, including 5 (2.1%) with multiple recurrences. Patients with late recurrences were younger (37.5 ± 6.9 years) than those without (43.8 ± 9.9; p = 0.011). Ischemic stroke occurred in 164 (68.9%) patients at first diagnosis, but only 4 of 46 (8.7%) subsequent events caused stroke (p < 0.0001), while 19 (41.3%) were asymptomatic. Connective tissue abnormalities were found in 54 (56.3%) patients with monophasic and 8 (66.7%) with late recurrent dissections (p = 0.494).ConclusionTwenty-two (9.2%) patients had new CeAD events within 1 month and 17 (7.1%) later recurrences. The risk for new events was significantly higher (about 60-fold) during the acute phase than during later follow-up. Connective tissue abnormalities were not more frequent in patients with late recurrent events than in those with monophasic CeAD.

Connective tissue and vascular phenotype in patients with cervical artery dissection

Neurology ◽  
2007 ◽  
Vol 68 (24) ◽  
pp. 2120-2124 ◽  
Author(s):  
R. Dittrich ◽  
A. Heidbreder ◽  
D. Rohsbach ◽  
J. Schmalhorst ◽  
I. Nassenstein ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Vascular Phenotype ◽  
Cervical Artery

scholarly journals Ischaemic stroke caused by spontaneous unilateral carotid artery dissection in patient with connective tissue disorder

2021 ◽  
Vol 21 (1) ◽  
pp. 41-46
Author(s):  
Weronika Pużyńska ◽  
◽  
Anna Mirończuk ◽  
Katarzyna Kapica-Topczewska ◽  
Adam Łukasiewicz ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Connective Tissue ◽  
Ischaemic Stroke ◽  
Young Patients ◽  
Carotid Artery Dissection ◽  
Artery Dissection ◽  
Left Internal Carotid Artery ◽  
Cervical Artery Dissection ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome

Background: Spontaneous cervical artery dissection is a major cause of ischaemic stroke in young patients. It is supposed that genetic variants associated with connective tissue disorders often lead to neurovascular complications, the management of which remains a challenge. Case presentation: A 30-year-old female was admitted to the Department of Neurology with an episode of visual disturbances, speech problems, and concomitant headache. Computed tomography angiography revealed left internal carotid artery dissection. Magnetic resonance of the brain showed cortical and subcortical acute ischaemic lesions in the left cerebral hemisphere. The patient was diagnosed with vascular Ehlers–Danlos syndrome based on the clinical course of the disease. Conservative treatment was administered with full neurological recovery. Conclusion: It is very important for clinicians to consider the coexistence of genetically determined connective tissue disorders in young patients who develop arterial dissections.

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