Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia.

The Journal of Comparative Neurology
John C FyfePaula S Henthorn

Abstract

Neuroaxonal dystrophy in brainstem, spinal cord tracts, and spinal nerves accompanied by cerebellar hypoplasia was observed in a colony of laboratory dogs. Fetal akinesia was documented by ultrasonographic examination. At birth, affected puppies exhibited stereotypical positioning of limbs, scoliosis, arthrogryposis, pulmonary hypoplasia, and respiratory failure. Regional hypoplasia in the central nervous system was apparent grossly, most strikingly as underdeveloped cerebellum and spinal cord. Histopathologic abnormalities included swollen axons and spheroids in brainstem and spinal cord tracts; reduced cerebellar foliation, patchy loss of Purkinje cells, multifocal thinning of the external granular cell layer, and loss of neurons in the deep cerebellar nuclei; spheroids and loss of myelinated axons in spinal roots and peripheral nerves; increased myocyte apoptosis in skeletal muscle; and fibrofatty connective tissue proliferation around joints. Breeding studies demonstrated that the canine disorder is a fully penetrant, simple autosomal recessive trait. The disorder demonstrated a type and distribution of lesions homologous to that of human infantile neuroaxonal dystrophy (INAD), most commonly caused by mutations of phospholi...Continue Reading

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Citations

Jun 7, 2011·Neurogenetics·John C FyfePaula S Henthorn
Feb 3, 2011·Current Neurology and Neuroscience Reports·Allison Gregory, Susan J Hayflick
Apr 11, 2017·Journal of Comparative Pathology·M BarrowsD Denk
Jul 6, 2019·Veterinary Pathology·James C TarrantEnrico Radaelli
Jun 2, 2020·Toxicologic Pathology·Ingrid D PardoXavier Palazzi
Jun 6, 2017·Veterinary Pathology·Sara Degl'InnocentiCarlo Cantile
Aug 26, 2021·Journal of Veterinary Diagnostic Investigation : Official Publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·Valdir M AlmeidaFábio S Mendonça

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