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Neurology 2002;58:1103-1105
© 2002 American Academy of Neurology
Brief Communications

Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections

C. Grond–Ginsbach, PhD, F. Wigger, MD, M. Morcher, PhD, F. von Pein, MD, A. Grau, MD, I. Hausser, PhD and T. Brandt, MD

From the Department of Neurology (Drs. Grond–Ginsbach, Wigger, Morcher, von Pein, Grau, and Brandt), and the Department of Dermatology (Dr. Hausser), University of Heidelberg, Germany.

Address correspondence and reprint requests to Dr. C. Grond–Ginsbach, Department of Neurology, University of Heidelberg, Im Neuenheimer Feld 400, D-69120 Heidelberg, Germany; e-mail: Caspar Grond-Ginsbach{at}med.uni-heidelberg.de

The authors searched for mutations in the gene that codes for the {alpha}2 chain of type V procollagen in 10 patients with spontaneous cervical artery dissections (sCAD). Two patients carried a missense mutation affecting the predicted C-propeptide (T1227S; D1429V). A third patient carried two mutations (V509A and P830L) in the same {alpha}2(V) chain. The T1227S mutation and the V509A/P830L haplotype also were detected among 50 healthy subjects. The D1429V substitution was detected neither in a series of 150 healthy control subjects nor among 50 additional patients with sCAD.




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