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Heritable connective tissue disorders in cervical artery dissections: a prospective study
W I Schievink1, E F Wijdicks, V V Michels
1Department of Neurologic Surgery, Mayo Clinic, Rochester, MN, USA.
Neurology
|May 5, 1998
Summary
Heritable connective tissue disorders are common in spontaneous cervical artery dissections. However, specific diagnoses are often elusive, suggesting a heterogeneous arteriopathy in these patients.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Spontaneous cervical artery dissection (sCAD) is a leading cause of stroke in young adults.
- Heritable connective tissue disorders (HCTDs) are suspected contributors to sCAD.
- The specific genetic basis and phenotypic spectrum of HCTDs in sCAD remain incompletely understood.
Observation:
- A prospective study evaluated 15 patients with sCAD.
- Three patients (20%) exhibited features of HCTDs.
- Each patient presented with a unique phenotype, and none met criteria for established HCTD syndromes.
Findings:
- Standard analyses for collagen and fibrillin were normal in affected patients.
- HCTDs are frequently observed in sCAD cases.
- Despite thorough investigation, precise HCTD identification is often not possible.
Implications:
- The findings suggest HCTDs are a significant, yet often undiagnosed, factor in sCAD.
- The heterogeneity in presentation and normal genetic analyses indicate a complex arteriopathy.
- Further research is needed to elucidate the genetic and molecular underpinnings of sCAD in the context of HCTDs.