Neuroaxonal dystrophy in a rottweiler pup.
ABSTRACT An 8-month-old Rottweiler pup was evaluated for neurologic disorder. Clinical signs included ataxia, hypermetria of all 4 limbs, intention tremors of the head, lack of a menace reflex bilaterally, and mild proprioceptive deficits. The pup was euthanatized because of the progressive nature of the disease. Histopathologic findings consisted of decreased numbers of Purkinje cells in the cerebellum and moderate numbers of axonal spheroids in the nucleus cuneatus. This latter finding confirmed the diagnosis of neuroaxonal dystrophy.
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ABSTRACT: Equine degenerative myeloencephalopathy (EDM) is a neurodegenerative disorder that has been previously associated with low vitamin E concentrations. To describe the clinical, electrophysiologic, and pathologic features of EDM in a group of related Lusitano horses. Fifteen Lusitano horses. Neurologic examinations were conducted, and serum vitamin E concentrations were measured. Three neurologically abnormal horses were further evaluated by ophthalmologic examination, electroretinography, electroencephalography, muscle and nerve biopsies, and post-mortem examination. Six horses appeared neurologically normal, 6 were neurologically abnormal, and 3 had equivocal gait abnormalities. Abnormal horses demonstrated ataxia and paresis. An inconsistent menace response was noted in 4 neurologically abnormal horses and in 1 horse with equivocal findings. All horses had low serum vitamin E concentrations (<1.5 ppm). Ophthalmologic examinations, electroretinograms, electroencephalograms, and muscle and peripheral nerve biopsies were unremarkable in 3 neurologically abnormal horses. At necropsy, major neuropathological findings in these horses were bilaterally symmetric, severe, neuro axonal degeneration in the gracilis, cuneatus medialis, cuneatus lateralis, and thoracicus nuclei and bilaterally symmetric axonal loss and demyelination mainly in the dorsolateral and ventromedial tracts of the spinal cord. A diagnosis of EDM was made based on these findings. Pedigree analysis identified 2 sires among the affected horses. Equine degenerative myeloencephalopathy is a neurodegenerative disorder that causes ataxia and, in severe cases, paresis, in young Lusitano horses. The disease appears to have a genetic basis, and although vitamin E deficiency is a common finding, low serum vitamin E concentrations also may occur in apparently unaffected related individuals.Journal of Veterinary Internal Medicine 11/2011; 25(6):1439-46. · 2.06 Impact Factor
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ABSTRACT: A 9-week old domestic short-hair kitten with progressive neurological dysfunction had histopathological lesions consistent with a lysosomal storage disease. Light microscopy of the brain, spinal cord, and ganglia revealed distention and vacuolation of many neuronal populations, and extensive neuroaxonal dystrophy. Large numbers of foamy macrophages were observed in the liver, spleen, lymph nodes, and lung. Hepatocytes appeared pale and swollen. Ultrastructural examination of all affected tissues and organs revealed heterogeneous membranous inclusions. Lipid analysis of liver revealed an excess of cholesterol, glucosylceramide, lactosylceramide and phospholipids including sphingomyelin. There was some increase in the levels of brain GM2 and GM3 gangliosides. Sphingomyelinase activity in liver was partially deficient or low normal. Skin fibroblasts were cultured from two affected cats from the colony established with littermates of the subject of this report. The cultured skin fibroblasts had partially decreased sphingomyelinase activity and a greatly decreased ability to esterify exogenous cholesterol. Clinical, morphological, and biochemical findings suggest that this cat had sphingolipidosis similar to human Niemann-Pick disease type C, a disease not previously described in the cat. The feline form of this storage disease may provide a useful model for studies on the human disease.Acta Neuropathologica 02/1990; 81(2):189-97. · 9.78 Impact Factor
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ABSTRACT: This review of abiotrophies in domestic animals has been organized by the predominate anatomical location of the lesion. Secondary considerations include the major signs of the clinical disorder and special neuropathological features. Those abiotrophies that have an established genetic basis are identified but the review includes degenerative disorders in which the etiology is not yet established.Canadian journal of veterinary research = Revue canadienne de recherche vétérinaire 02/1990; 54(1):65-76. · 0.85 Impact Factor