Ceroid‐lipofuscinosis in miniature Schnauzer dogs

Jolly, RD; Sutton, R. H.; Smith, Reginald; Palmer, D. N.

doi:10.1111/j.1751-0813.1997.tb13839.x

Cited by 17 publications

(4 citation statements)

References 2 publications

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“…These reports range from very limited descriptions of clinical signs in one or a few isolated cases (Appleby et al, 1982; Bichsel and Vandevelde, 1982; Cantile et al, 1996; Cummings and de Lahunta, 1977; Hoover et al, 1984; Jolly et al, 1994b; Pickett et al, 1992; Rossmeisl et al, 2003; Vandevelde and Fatzer, 1980), to more thorough characterizations of the disease phenotypes, including histopathology, in multiple affected dogs of the same breed (Goebel, 1992; Goebel and Dahme, 1985; Goebel and Dahme, 1986; Jolly et al, 1994a; Jolly et al, 1997; Kirchhoff and Kobe, 1994; Minatel et al, 2000; Narfström et al, 2007; Nimmo Wilkie and Hudson, 1982; Palmer et al, 1997b; Smith et al, 1996). There is a wide range in the amount of evidence used to support putative diagnoses of NCL in these cases.…”

Section: Putative Canine Ncls For Which the Causative Mutation Hasmentioning

confidence: 99%

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions

Katz

Rustad²,

Robinson

et al. 2017

Neurobiology of Disease

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The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most forms having a childhood onset of clinical signs. The NCLs are characterized by progressive cognitive and motor decline, vision loss, seizures, respiratory and swallowing impairment, and ultimately premature death. Different forms of NCL result from mutations in at least 13 genes. The clinical signs of some forms overlap significantly, so genetic testing is the only way to definitively determine which form an individual patient suffers from. At present, an effective treatment is available for only one form of NCL. Evidence of NCL has been documented in over 20 canine breeds and in mixed-breed dogs. To date, 12 mutations in 8 different genes orthologous to the human NCL genes have been found to underlie NCL in a variety of dog breeds. A Dachshund model with a null mutation in one of these genes is being utilized to investigate potential therapeutic interventions, including enzyme replacement and gene therapies. Demonstration of the efficacy of enzyme replacement therapy in this model led to successful completion of human clinical trials of this treatment. Further research into the other canine NCLs, with in-depth characterization and understanding of the disease processes, will likely lead to the development of successful therapeutic interventions for additional forms of NCL, for both human patients and animals with these disorders.

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Section: Putative Canine Ncls For Which the Causative Mutation Hasmentioning

confidence: 99%

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions

Katz

Rustad²,

Robinson

et al. 2017

Neurobiology of Disease

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“…Still to be identified are the molecular genetic causes of the previously reported NCLs in other breeds, such as the Australian Cattle Dog (also known as Blue Heeler), Cocker Spaniel, Dalmatian, Labrador Retriever, Miniature Schnauzer, Polish Lowland Sheepdog, and Saluki . Mutations causing NCL are likely to be segregating in additional breeds for which the disease has not yet been reported.…”

Section: Breed Distributions Of Canine Ncl‐associated Mutationsmentioning

confidence: 99%

“…8,11 Faller et al 15 were the first to report a previously identified NCL-causing mutation in a second dog breed when they described NCL in Chihuahua siblings that were homozygous for a single-base deletion and frameshift that had already been reported in a Chinese Crested Dog with NCL. 9 Still to be identified are the molecular genetic causes of the previously reported NCLs in other breeds, such as the Australian Cattle Dog (also known as Blue Heeler), 16 Cocker Spaniel, 17 Dalmatian, 18 Labrador Retriever, 19 Miniature Schnauzer, 20 Polish Lowland Sheepdog, 21 and Saluki. 22 Mutations causing NCL are likely to be segregating in additional breeds for which the disease has not yet been reported.…”

mentioning

confidence: 99%

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for aCLN5Nonsense Mutation Previously Identified in Border Collies

Kolicheski

Johnson

O’Brien

et al. 2016

Veterinary Internal Medicne

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BackgroundNeuronal ceroid lipofuscinosis (NCL), a fatal neurodegenerative disease, has been diagnosed in young adult Australian Cattle Dogs.ObjectiveCharacterize the Australian Cattle Dog form of NCL and determine its molecular genetic cause.AnimalsTissues from 4 Australian Cattle Dogs with NCL‐like signs and buccal swabs from both parents of a fifth affected breed member. Archived DNA samples from 712 individual dogs were genotyped.MethodsTissues were examined by fluorescence, electron, and immunohistochemical microscopy. A whole‐genome sequence was generated for 1 affected dog. A TaqMan allelic discrimination assay was used for genotyping.ResultsThe accumulation of autofluorescent cytoplasmic storage material with characteristic ultrastructure in tissues from the 4 affected dogs supported a diagnosis of NCL. The whole‐genome sequence contained a homozygous nonsense mutation: CLN5:c.619C>T. All 4 DNA samples from clinically affected dogs tested homozygous for the variant allele. Both parents of the fifth affected dog were heterozygotes. Archived DNA samples from 346 Australian Cattle Dogs, 188 Border Collies, and 177 dogs of other breeds were homozygous for the reference allele. One archived Australian Cattle Dog sample was from a heterozygote.Conclusions and Clinical ImportanceThe homozygous CLN5 nonsense is almost certainly causal because the same mutation previously had been reported to cause a similar form of NCL in Border Collies. Identification of the molecular genetic cause of Australian Cattle Dog NCL will allow the use of DNA tests to confirm the diagnosis of NCL in this breed.

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“…However, there are many other canine breeds showing clinical as well as histopathological evidence of NCL, but the genetic background of the disease has not been elucidated so far in these breeds. Examples comprise Australian Cattle Dog, Cocker Spaniel, Dalmatian, Labrador Retriever, Miniature Schnauzer, and Saluki (2,6,12,18,29,32).…”

Section: Discussionmentioning

confidence: 99%

Neuronale Zeroidlipofuszinose bei einem adulten American Staffordshire Terrier

Nolte¹,

Bello²,

Drögemüller³

et al. 2016

Tierarztl Prax Ausg K

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A female, 5-year-old American Staffordshire Terrier with severe progressive neurological deficits, particularly in terms of ataxia and keeping balance, was examined pathomorphologically and a genetic analysis was performed. In neurons of various localizations of the central nervous system an accumulation of a finely granular pale eosinophilic or light brown material was found. In addition, the cerebellum revealed marked degeneration and loss of Purkinje and inner granule cells. The accumulated PAS-positive, argyrophilic, autofluorescent material showed ultrastructurally a lamellar appearance suggestive of lipofuscin. Genetic analysis revealed the presence of a sequence variant in the ARSG gene encoding the lysosomal enzyme arylsulfatase G. This case report describes an adult-onset of a neuronal ceroid lipofuscinosis that shows similarities with a human disorder termed Kufs disease.

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Ceroid‐lipofuscinosis in miniature Schnauzer dogs

Cited by 17 publications

References 2 publications

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for aCLN5Nonsense Mutation Previously Identified in Border Collies

Neuronale Zeroidlipofuszinose bei einem adulten American Staffordshire Terrier

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