Ceroid-lipofuscinosis in Border Collie dogs

Taylor, R. M.; Farrow, B. R. H.

doi:10.1007/bf00686209

Cited by 41 publications

(19 citation statements)

References 6 publications

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“…Based on information from the owners and veterinarians of the affected dogs, their characteristic clinical features were determined (Table 2), although there were individual differences in the onset and progression rate of the disease and the symptoms, as reported previously [6]. Mild clinical signs, such as behavioral problems, begin at 15 months of age at the earliest, but the onset is usually a few months later (approximately 18 months of age) at the early stage.…”

Section: Discussionmentioning

confidence: 99%

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

Mizukami

Kawamichi²,

Tamura³

et al. 2012

The Scientific World Journal

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Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative lysosomal disease that causes premature death. The present study describes the clinical and molecular epidemiologic findings of NCL in Border Collies in Japan for 12 years, between 2000 and 2011. The number of affected dogs was surveyed, and their clinical characteristics were analyzed. In 4 kennels with affected dogs, the dogs were genotyped. The genetic relationships of all affected dogs and carriers identified were analyzed. The survey revealed 27 affected dogs, but there was a decreasing trend at the end of the study period. The clinical characteristics of these affected dogs were updated in detail. The genotyping survey demonstrated a high mutant allele frequency in examined kennels (34.8%). The pedigree analysis demonstrated that all affected dogs and carriers in Japan are related to some presumptive carriers imported from Oceania and having a common ancestor. The current high prevalence in Japan might be due to an overuse of these carriers by breeders without any knowledge of the disease. For NCL control and prevention, it is necessary to examine all breeding dogs, especially in kennels with a high prevalence. Such endeavors will reduce NCL prevalence and may already be contributing to the recent decreasing trend in Japan.

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Section: Discussionmentioning

confidence: 99%

“…NCL in Border Collies was first identified in Australia in the 1980s [6–8], and a sporadic case with the disease was also reported in the USA in the 1990s [9]. A diagnosis of the first case in Japan was made in a Border Collie that was born in 2000 [10].…”

Section: Introductionmentioning

confidence: 99%

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

Mizukami

Kawamichi²,

Tamura³

et al. 2012

The Scientific World Journal

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“…It had been long considered to be a good animal model for human juvenile NCL until defects in the canine ortholog of the CLN 3 gene were ruled out as the cause of the disease in this breed [8]. NCL cases in border collies have been reported and the pedigree analysis allowed the carriers to predict the possibility of NCL in some families [9,10]. This report describes the clinical, MRI, biochemical, microscopic, and ultrastructural features of ceroid lipofuscinosis in a border collie.…”

mentioning

confidence: 99%

“…The NCL of border collies was first recognized in Australia and New Zealand [10]. In 1992, the NCL of a male border collie of unknown pedigree was reported in the United States [5].…”

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confidence: 99%

Magnetic Resonance Imaging of Neuronal Ceroid Lipofuscinosis in a Border Collie

Shibuya

Sato

et al. 2004

The Journal of Veterinary Medical Science

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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.

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“…However, it does not accumulate in the infantile form [Palmer et al, 19921. Animal models for neuronal ceroid lipofuscinoses have also been identified in dogs [Wood et al, 1987;Taylor and Farrow, 1988;Koppang, 19881, sheep [Jolly et al, 1980;Palmer et al, 19901, and cattle [Harper et al, 19881. Recently a mouse mutant, called motor neuron degeneration ( n n d ) , has been identified and shows clinical signs, histopathology, and accumulation of subunit c similar to NCLs [Bronson et al, 1993;Faust et al, 19941.…”

Section: Introductionmentioning

confidence: 99%

Late‐infantile Batten disease: Purification of the subunit c of the mitochondrial ATP synthase from storage material

Hagopian

Lake

Winchester³

et al. 1995

Am. J. Med. Genet.

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The accumulation of subunit c of the mitochondrial ATP synthase in late-infantile neuronal lipofuscinosis (LINCL) and juvenile neuronal lipofuscinosis (JNCL) is well documented. The purification of the subunit from diverse sources has been reported previously, although not from the brain of Batten disease patients. This proteolipid has now been purified from late-infantile Batten disease brain. The procedures used were an original combination of the conventional solubilisation, differential centrifugation, organic solvent extractions, preparative gel electrophoresis, and FPLC. Gel filtration of the purified protein indicated molecular mass equal to or greater than 2 x 10(6) Da; however, electrophoresis of this pure protein suggested a molecular mass of approximately 3,500 Da, which is a characteristic of subunit c. The pure protein may be solubilised in aqueous buffer containing < 1% lithium dodecyl sulphate (LDS). The protein binds dicyclohexylcarbodiimide (DCCD) and shows immunoreactivity to antibodies raised against ovine storage bodies.

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Ceroid-lipofuscinosis in Border Collie dogs

Cited by 41 publications

References 6 publications

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

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

Magnetic Resonance Imaging of Neuronal Ceroid Lipofuscinosis in a Border Collie

Late‐infantile Batten disease: Purification of the subunit c of the mitochondrial ATP synthase from storage material

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