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Familial cervical artery dissections: clinical, morphologic, and genetic studies
Juan Jose Martin1, Ingrid Hausser, Philippe Lyrer
1Department of Neurology, Sanatorio Allende, Hipólito Irigoyen 384, CP 5000, Córdoba, Argentine. juanjmartin@gmx.net
Stroke
|October 21, 2006
Summary
Familial cervical artery dissection (CAD) patients are young and prone to recurrent dissections. A COL3A1 gene mutation was identified in one family, indicating an inherited connective tissue disorder.
Area of Science:
- Genetics
- Vascular Neurology
- Connective Tissue Disorders
Background:
- Spontaneous cervical artery dissections (CAD) are influenced by genetic factors.
- Familial occurrence of CAD is rare, prompting investigation into its specific characteristics.
Purpose of the Study:
- To analyze patients with familial CAD to identify unique features.
- To investigate potential genetic and morphological factors contributing to familial CAD.
Main Methods:
- Recruited seven families with 15 CAD patients.
- Conducted neurological, neuroradiological, and dermatological examinations.
- Performed skin biopsies for connective tissue morphology and analyzed COL3A1, COL5A1, COL5A2, and COL1A1 gene sequences.
Main Results:
- Familial CAD patients were young (mean age 36.2 years) and at high risk for recurrent or multiple dissections.
- One family exhibited a COL3A1 gene mutation (G157S), suggesting a connective tissue disorder.
- Ultrastructural skin abnormalities were observed in one patient, but not consistently across all familial cases.
Conclusions:
- Familial CAD is characterized by early onset and a high risk of recurrence.
- Inherited connective tissue disorders, such as those linked to COL3A1 mutations, are implicated in some familial CAD cases.
- Dermal connective tissue alterations may not be a primary risk factor for familial CAD.
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