Clinical and Pathologic Features of Neuronal Ceroid-Lipofuscinosis in a Ferret (Mustela putorius furo)

Abstract

Clinical and pathologic features of neuronal ceroid-lipofuscinosis in a 4-month-old ferret are reported. Clinical signs including neurological symptoms appeared at 3 months of age and progressed rapidly. By magnetic resonance imaging, severe cerebral atrophy was recognized. Histopathologically, there was severe neuronal loss and diffuse astrogliosis with macrophage accumulations; lesions were found predominantly in the cerebral cortex. Intracytoplasmic pigments were observed in surviving neurons and macrophages throughout the brain. The pigments were intensely positive for periodic acid-Schiff, Luxol fast blue, and Sudan black B and exhibited a green autofluorescence. Electron microscopic examination revealed the accumulation of electron-dense granular material within lysosomes of neurons and macrophages. Immunohistochemically, a large number of saposin-positive granules accumulated in the neuronal cells, astrocytes, and macrophages of the lesions, but significant immunoreactivity for subunit c of mitochondrial adenosine triphosphate synthase was not observed. Based on these findings, the animal was diagnosed as affected by neuronal ceroid-lipofuscinosis.

Characterization of Neuronal Ceroid-Lipofuscinosis in 3 Cats

“…Lipopigment accumulation is often most prominent within hippocampal pyramidal cells, cerebellar Purkinje cells, and, to a lesser degree, neurons of the brainstem and the regions of cerebral neuronal loss. y The primarily green autofluorescence of the lipopigment in the present 3 cats was consistent with previous reports of NCL in cats, a ferret, and a Vietnamese potbelly pig, 4,6,21,23 but the storage material in most dogs with NCL tends to exhibit bright yellow autofluorescence at similar excitation wavelengths. 7,13,14,28 Interspecies diversity of the lipopigment constituents and/or differences in the fluorescence microscopy equipment and/or protocol may explain this apparent disparity.…”

“…Previous case reports and studies in several domesticated species indicate that NCL, as in many of the human forms of the disease, is associated with regional and time-and cellspecific changes in the CNS. 6,23,25,30 Although there may be some inter-and intraspecies variation in the distribution of lesions at the time of death/euthanasia, there is most often a loss of neurons within the cerebral cortex and, to a lesser extent, the cerebellar Purkinje and/or granular cell layers. Astrogliosis typically accompanies neuronal loss particularly within the cerebral cortex.…”

Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis

“…The histochemical and immunohistological results in the CNS are consistent with previously published reports on NCL in humans (Anderson et al, 2013) and other animal species (Ashwini et al, 2016;Cesta et al, 2006;Chalkley et al, 2014;Faller et al, 2016;Guo et al, 2015;Nibe et al, 2011;Nolte et al, 2016). The most prominent features in this case were the astrogliosis and loss of phosphorylated neurofilament throughout the CNS.…”

Pathology of the Aging Brain in Domestic and Laboratory Animals, and Animal Models of Human Neurodegenerative Diseases

“…84 Among animals, some gene NCL-associated mutations are found in sheep (CLN5, CLN6, and CL10), cattle (CLN5), and dogs (CLN2, CLN5, CLN8, and CL10). 130 Biochemically, subunit c of mitochondrial adenosine triphosphate synthase is the main material that accumulates in NCL ( Fig. 11), but saposins A and D also accumulate in some subtypes of the condition.…”