ALPHA-1-ANTITRYPSIN PHENOTYPES AND ASSOCIATED DISEASE PATTERNS IN NEUROLOGICAL PATIENTS

Introduction - Alpha-l-antitrypsin (AAT) deficiency is usually associa ted with lung or liver disease. It is often detected as a qualitative reduction of the alpha-1 band on the serum protein electrophoretic pat tern. Material and methods - We examined the protein electrophoretic p attern in sera of 22980 unselected consecutive patients with neurologi cal 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 g eneral population, PiMZ was four times more common than PiMS. Vascular disease was more common in patients with PiMZ while multiple sclerosi s significantly more frequents in patients with PiMS than with other p henotypes, including PiMM. Conclusions - Other genetic abnormalities h ave previously been found in AAT associated with multiple sclerosis, b ut not PiMS. Since PIMS leads to modest reduction of AAT activity, the association may be through other mechanisms than reduced protease act ivity.