title: Alpha-1-antitrypsin phenotypes and associated disease patterns in neurological patients.
abstract: BACKGROUND
  Alpha-1-antitrypsin (AAT) deficiency is usually associated with lung or liver disease. It is often detected as a qualitative reduction of the alpha-1 band on the serum protein electrophoretic pattern.
  
  
  METHODS
  We examined the protein electrophoretic pattern in sera of 22980 unselected consecutive patients with neurological disorders and noted a reduced alpha-1 band in 88. Their phenotypes were compared with the clinical disease.
  
  
  RESULTS
  75 patients had a deficient or non-M and 13 the usual MM phenotype. Contrary to in the general population, PiMZ was four times more common than PiMS. Vascular disease was more common in patients with PiMZ while multiple sclerosis significantly more frequent in patients with PiMS than with other phenotypes, including PiMM.
  
  
  CONCLUSIONS
  Other genetic abnormalities have previously been found in AAT associated with multiple sclerosis, but not PiMS. Since PIMS leads to modest reduction of AAT activity, the association may be through other mechanisms than reduced protease activity.
authors.affiliation: Department of Chemical Pathology, National Hospitals for Neurology and Neurosurgery, Queen Square, London, England.
authors.forename: Y I
authors.initials: YI
authors.lastname: Lolin
authors.forename: A M
authors.initials: AM
authors.lastname: Ward
mesh_terms: D000328:Adult; D000368:Aged; D002561:Cerebrovascular Disorders / Q000235:genetics; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics; D009369:Neoplasms / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics*; D010641:Phenotype; D012189:Retrospective Studies; D012307:Risk Factors; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin