Journal of the neurological sciences · 2026
Genomic, clinical, and radiological characterization of spontaneous cervical artery dissections: Findings from a single-center cohort.
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Scala Irene, Trevisan Valentina, Rizzo Pier Andrea, Bisegna Maurizio, Donnarumma Francesca, Concolino Paola, Minucci Angelo, Castori Marco, Bersano Anna, Calabresi Paolo, Leoni Chiara, Frisullo Giovanni
Аннотация
INTRODUCTION: The pathogenesis of spontaneous cervical artery dissection (sCeAD) remains incompletely understood. In this study, we performed a comprehensive clinical and radiological characterization of sCeAD patients and investigated rare variants in genes associated with vascular fragility using next-generation sequencing (NGS).
PATIENTS AND METHODS: From January 2021 to February 2025, we enrolled consecutive adult with sCeAD evaluated at the Neurology Department of our hospital. Patients presenting at least one feature suggestive of mendelian origin (positive family history, multi-territory vascular abnormalities, dysmorphological features) underwent genetic testing using an NGS panel including 62 genes related to vascular fragility. All patients underwent neurological, dysmorphological examinations and whole-body CT Angiography.
RESULTS: Twenty-nine patients were enrolled (mean age 47.1 ± 10.7 years; 16 women, 55.2%). The internal carotid artery was the most frequently affected vessel by the index dissection (25/29, 86.2%). Pathogenic or likely pathogenic variants were identified in two patients (COL1A1 and MYLK genes; 6.9%). Two patients (6.9%) were heterozygous for likely pathogenic variants associated with autosomal recessive conditions (COL4A3 and TNXB), while rare variants of uncertain significance were detected in 11 patients (37.9%). At least one dysmorphological abnormality was identified in 25/28 patients (89.3%), and multidistrict vascular involvement was observed in 20/29 individuals (69.0%) of our selected cohort of sCeAD patients. Vascular abnormalities beyond the cervicocephalic region were detected in 17 patients (58.6%).
DISCUSSION AND CONCLUSION: Pathogenic or likely pathogenic variants considered clinically relevant to the vascular phenotype were identified in two patients of our selected cohort of sCeAD patients (6.9%). Our findings suggest that dysmorphological features and multidistrict vascular involvement may help identify sCeAD patients who are more likely to benefit from genetic testing.
PATIENTS AND METHODS: From January 2021 to February 2025, we enrolled consecutive adult with sCeAD evaluated at the Neurology Department of our hospital. Patients presenting at least one feature suggestive of mendelian origin (positive family history, multi-territory vascular abnormalities, dysmorphological features) underwent genetic testing using an NGS panel including 62 genes related to vascular fragility. All patients underwent neurological, dysmorphological examinations and whole-body CT Angiography.
RESULTS: Twenty-nine patients were enrolled (mean age 47.1 ± 10.7 years; 16 women, 55.2%). The internal carotid artery was the most frequently affected vessel by the index dissection (25/29, 86.2%). Pathogenic or likely pathogenic variants were identified in two patients (COL1A1 and MYLK genes; 6.9%). Two patients (6.9%) were heterozygous for likely pathogenic variants associated with autosomal recessive conditions (COL4A3 and TNXB), while rare variants of uncertain significance were detected in 11 patients (37.9%). At least one dysmorphological abnormality was identified in 25/28 patients (89.3%), and multidistrict vascular involvement was observed in 20/29 individuals (69.0%) of our selected cohort of sCeAD patients. Vascular abnormalities beyond the cervicocephalic region were detected in 17 patients (58.6%).
DISCUSSION AND CONCLUSION: Pathogenic or likely pathogenic variants considered clinically relevant to the vascular phenotype were identified in two patients of our selected cohort of sCeAD patients (6.9%). Our findings suggest that dysmorphological features and multidistrict vascular involvement may help identify sCeAD patients who are more likely to benefit from genetic testing.