title: Polyneuropathy in feline Niemann-Pick disease.
abstract: Two related cats, aged 5 months and 7 months, and 1 unrelated cat, aged 4 months, presented with signs of a progressive neuromuscular disease. Detailed electrophysiological studies suggested a primary demyelinating polyneuropathy, which was confirmed by muscle and nerve biopsies and on necropsy examination. Light and electron microscopic findings indicated a lysosomal storage disease, which was diagnosed as sphingomyelinase deficiency (Niemann-Pick disease) by enzyme analysis and lipid fractionation, although significant biochemical differences existed between the 2 related cats and the third cat. Several lines of evidence suggest that these 2 related cats were affected with a variant of type A Niemann-Pick disease, whereas cat 3 represented classic Niemann-Pick disease type A.
authors.affiliation: School of Veterinary Medicine, University of Wisconsin, Madison 53706.
authors.forename: P A
authors.initials: PA
authors.lastname: Cuddon
authors.forename: R J
authors.initials: RJ
authors.lastname: Higgins
authors.forename: I D
authors.initials: ID
authors.lastname: Duncan
authors.forename: S P
authors.initials: SP
authors.lastname: Miller
authors.forename: J M
authors.initials: JM
authors.lastname: Parent
authors.forename: A B
authors.initials: AB
authors.lastname: Moser
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000503:physiopathology*; D002415:Cats; D002490:Central Nervous System / Q000473:pathology; D005591:Chemical Fractionation; D004594:Electrophysiology; D006651:Histocytochemistry; D050356:Lipid Metabolism; D008247:Lysosomes / Q000201:enzymology; D009132:Muscles / Q000378:metabolism; D009542:Niemann-Pick Diseases / Q000150:complications / Q000473:pathology / Q000662:veterinary*; D010525:Peripheral Nerves / Q000378:metabolism / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000209:etiology / Q000503:physiopathology / Q000662:veterinary*