Laminin α2 (merosin)-deficient muscular dystrophy and demyelinating neuropathy in two cats

• Published in: Journal of the neurological sciences Vol. 189; no. 1; pp. 37 - 43
• Main Authors: O'Brien, Dennis P, Johnson, Gayle C, Liu, Ling A, Guo, Ling T, Engvall, Eva, Powell, Henry C, Shelton, G.Diane
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 15.08.2001
• Subjects: Animal model; Congenital muscular dystrophy; Demyelination; Feline; Laminin; Merosin; Peripheral neuropathy; Merosin; Animal model; Laminin; Congenital muscular dystrophy; Demyelination; Feline; Peripheral neuropathy
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/S0022-510X(01)00559-7

We report laminin α2 (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 α2 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 α2)-deficient congenital muscular dystrophy (CMD) in humans and to dystrophia muscularis in mice.