Magnetic Resonance Imaging of Neuronal Ceroid Lipofuscinosis in a Border Collie

Abstract

ABSTRACT. A castrated male border collie 23 months of age weighing 19.4 kg was referred to the Animal Medical Center of Nihon University with complaints of visual disturbance and behavioral abnormality, hyperacusis and morbid fear. The MRI examination revealed the slight dilated cerebral sulci and cerebellar fissures and left ventricular enlargement. This is the first report of MRI fin dings of canine neuronal ceroid lipofuscinosis. KEY WORDS: border collie, MRI, neuronal ceroid lipofuscinosis.

Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011)

“…The first case, born in 2000, was diagnosed with NCL histopathologically [10], which was confirmed molecularly using the stored liver specimen. Since this case, several affected dogs from a single or a few litters were diagnosed nearly every year up until recently in Japan.…”

“…The clinical characteristics were analyzed and summarized using information about all of the affected dogs, which was gleaned from interviews and questionnaires of their owners and veterinarians. Some of the affected dogs were examined using the following prediagnostic tests: magnetic resonance image (MRI) scan in 7 dogs, including a previously reported dog [10]; computed tomography (CT) scan in 2 dogs; ophthalmologic examination in 3 dogs. The findings of these examinations were also analyzed and summarized.…”

“…A diagnosis of the first case in Japan was made in a Border Collie that was born in 2000 [10]. The pathogenic mutation was reported in 2005 to be a nonsense mutation (c.619C>T) in exon 4 in the canine CLN5 gene [11], which enabled a DNA-based genotyping of affected dogs and carriers.…”

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

“…The atrophic cerebrum was characterized by ceroid-lipofuscin deposition as well as very severe astrogliosis and neuronal loss. In dogs affected by NCL, brain atrophy with ventricular dilation has been observed by MRI examinations, 14 although these features also occur in aged dogs infected with CDV, a condition commonly termed ''old dog encephalitis.'' 7 However, early clinical onset, histopathological features, and absence of CDV antigens in the CNS rule out the possibility of the viral infection in the present case.…”

“…10 Subunit c of mitochondrial adenosine triphosphate synthase (SCMAS) is the main storage material in the diseases caused by the mutations in CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, and CLCN7, whereas the accumulation of saposins (A and D) is recognized in some subtypes of NCL (those affected by mutations in CLN1 and CLN10). 10 Clinical and pathological features of the disease have been reported in several animal species, such as dogs, 1,2,13,14,18,19,22,23,26,28 cats, 16,21 sheep, 5,12,24,25 cattle, 6,8,11 goats, 4 horses, 9,31 and nonhuman primates. 29 Even in the veterinary field, mutations of causative genes have been identified: CLN5, 5 CLN6, 24,25 and CL10 30 in sheep; CLN5 in cattle 8 ; and CLN2 (TPP1), 1 CLN5, 18 CLN8, 13 and CLN10 (CTSD) 2 in dogs.…”