title: The clinical and pathologic heterogeneity of feline alpha-mannosidosis.
abstract: Three Domestic Long-haired cats from a litter of five afflicted with alpha-mannosidosis (alpha-mannosidosis) were studied clinically and pathologically. Many of these findings contrasted with those made previously in kittens with deficiency of alpha-mannosidase. In these cats, the clinical signs were generally milder, more slowly progressive, and did not include the prominent skeletal deformities, ocular abnormalities, or hepatomegaly that were reported in prior studies of Persian and Domestic Short-haired kittens. While the Domestic Long-haired cats were spared the central nervous system (CNS) myelin deficiency, which was severe in the Persian but mild in the Domestic Short-haired cats, the extensive loss of Purkinje cells in their cerebellar cortices was without precedent. Additionally, ultrastructural study of the neuronal cytosomes showed a diversity not recorded in the earlier cases. The observed phenotypic heterogeneity was sufficient enough to consider separating feline alpha-mannosidosis into severe, acute and milder, chronic forms in a manner analogous to the Type I and Type II distinctions made in infants and juveniles.
authors.affiliation: Department of Anatomy, New York State College of Veterinary Medicine, Cornell University, Ithaca 14853.
authors.forename: J F
authors.initials: JF
authors.lastname: Cummings
authors.forename: P A
authors.initials: PA
authors.lastname: Wood
authors.forename: A
authors.initials: A
authors.lastname: de Lahunta
authors.forename: S U
authors.initials: SU
authors.lastname: Walkley
authors.forename: L
authors.initials: L
authors.lastname: Le Boeuf
mesh_terms: D000818:Animals; D001921:Brain / Q000648:ultrastructure*; D001927:Brain Diseases / Q000473:pathology / Q000662:veterinary; D002371:Cat Diseases / Q000473:pathology*; D002415:Cats; D005260:Female; D008297:Male; D008361:Mannosidases / Q000172:deficiency; D008854:Microscopy, Electron; D009474:Neurons / Q000473:pathology / Q000648:ultrastructure*; D043323:alpha-Mannosidase; D008363:alpha-Mannosidosis / Q000473:pathology / Q000662:veterinary*
chemical_list: D008361:Mannosidases; D043323:alpha-Mannosidase