title: Alpha-1-antitrypsin deficiency alleles are not associated with cervical artery dissections.
abstract: The authors searched for the presence of alpha-1-antitrypsin (AAT) deficiency alleles PiZ and PiS in 74 patients with spontaneous cervical artery dissections (sCADs) and in 74 healthy control subjects. In both groups, the authors found four carriers of deficiency alleles. The connective tissue morphology of one additional patient with sCAD with PiZM genotype and her relatives was studied in skin biopsies. The PiZ allele did not segregate with morphologic alterations of the dermal connective tissue in the family. Therefore, AAT deficiency alleles may not play a role in the etiology of sCAD.
authors.affiliation: Department of Neurology, University of Heidelberg, Germany. caspar_grond-ginsbach@med.uni-heidelberg.de
authors.forename: C
authors.initials: C
authors.lastname: Grond-Ginsbach
authors.forename: S
authors.initials: S
authors.lastname: Engelter
authors.forename: I
authors.initials: I
authors.lastname: Werner
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: U S
authors.initials: US
authors.lastname: Müller
authors.forename: T
authors.initials: T
authors.lastname: Brandt
authors.forename: P
authors.initials: P
authors.lastname: Lyrer
mesh_terms: D000328:Adult; D001706:Biopsy; D020215:Carotid Artery, Internal, Dissection / Q000453:epidemiology / Q000235:genetics*; D015984:Causality; D002875:Chromosomes / Q000235:genetics; D003238:Connective Tissue / Q000473:pathology; D020405:Dermis / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008297:Male; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012016:Reference Values; D013557:Switzerland / Q000453:epidemiology; D020217:Vertebral Artery Dissection / Q000453:epidemiology / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000453:epidemiology / Q000235:genetics*