title: Laminin alpha 2 (merosin)-deficient muscular dystrophy and demyelinating neuropathy in two cats.
abstract: We report laminin alpha 2 (merosin) deficiency associated with muscular dystrophy and demyelinating neuropathy in two cats. The cats developed progressive muscle weakness, and atrophy. Either hypotonia or contractures resulted in recumbency, necessitating euthanasia. Muscle biopsies showed dystrophic changes including marked endomysial fibrosis, myofiber necrosis, variability of fiber size, and perimysial lipid accumulation. Immunohistochemistry showed that laminin alpha 2 chain was absent or reduced, while dystrophin and all the components of the dystrophin-associated glycoprotein complex were present and normal. One cat was examined in detail. Motor nerve conduction velocity (MNCV) was decreased, and ultrastructurally the peripheral nerves showed Schwann cell degeneration and demyelination. Brain imaging was not performed, but white matter changes were not apparent in the brain at necropsy. The disease in these cats is similar to primary or secondary merosin (laminin alpha 2)-deficient congenital muscular dystrophy (CMD) in humans and to dystrophia muscularis in mice.
authors.affiliation: Department of Veterinary Medicine and Surgery, University of Missouri, 379 E. Campus Drive, Columbia, MO 65211, USA. OBrienD@missouri.edu
authors.forename: D P
authors.initials: DP
authors.lastname: O'Brien
authors.forename: G C
authors.initials: GC
authors.lastname: Johnson
authors.forename: L A
authors.initials: LA
authors.lastname: Liu
authors.forename: L T
authors.initials: LT
authors.lastname: Guo
authors.forename: E
authors.initials: E
authors.lastname: Engvall
authors.forename: H C
authors.initials: HC
authors.lastname: Powell
authors.forename: G D
authors.initials: GD
authors.lastname: Shelton
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000235:genetics* / Q000473:pathology; D002415:Cats; D003286:Contracture / Q000209:etiology; D003711:Demyelinating Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D005260:Female; D007797:Laminin / Q000172:deficiency* / Q000235:genetics; D009124:Muscle Proteins / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D009127:Muscle Rigidity / Q000209:etiology; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D009133:Muscular Atrophy / Q000209:etiology; D009137:Muscular Dystrophy, Animal / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics; D009431:Neural Conduction; D010543:Peroneal Nerve / Q000737:chemistry / Q000473:pathology
chemical_list: D007797:Laminin; D009124:Muscle Proteins; D009419:Nerve Tissue Proteins; C102645:laminin alpha 2