title: Lymphocyte autofluorescence: a screening procedure for neurodegenerative diseases.
abstract: We examined the buffy coats from 12 consecutive patients with neurodegenerative diseases to determine the value of autofluorescence study by fluorescence microscopy in parallel with electron microscopy, as a rapid and inexpensive screening procedure for lymphocyte inclusions characteristic of neuronal ceroidlipofuscinoses. Four patients (3 with neuronal ceroidlipofuscinoses and 1 with Hallervorden-Spatz syndrome) had discrete, yellow-orange, 1-2 microns autofluorescent granules in the cytoplasm of some lymphocytes. These granules corresponded to characteristic inclusions of neuronal ceroidlipofuscinoses demonstrated by electron microscopy. Five patients (4 undiagnosed or nonspecific disease, and 1 with Leber congenital amaurosis) had hazy green cytoplasmic autofluorescence which correlated with parallel tubular arrays in lymphocytes. The 3 patients with no autofluorescence had no ultrastructural lymphocytic inclusions. We conclude that buffy coat autofluorescence is a rapid and inexpensive method of identifying specimens that require electron microscopic confirmation, and the absence of autofluorescence of lymphocytes in a buffy coat specimen eliminates the necessity for electron microscopic examination. However, characteristic ultrastructural inclusions associated with neurodegenerative diseases may occur in other tissues, such as skin and conjunctiva.
authors.affiliation: Department of Pathology, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: E P
authors.initials: EP
authors.lastname: Hawkins
authors.forename: H K
authors.initials: HK
authors.lastname: Hawkins
authors.forename: D
authors.initials: D
authors.lastname: Armstrong
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008062:Lipofuscin / Q000032:analysis; D008214:Lymphocytes / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D008856:Microscopy, Fluorescence; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology*
chemical_list: D008062:Lipofuscin