Abbreviated Name: NCL
Disease Description: A congenital disease where fatty pigments are deposited in the brain and cause brain dysfunction.
Inherit Mode: -
Disease Symptom: Affected dogs are typically less than 1 year old; however, they may not show clinical signs until they mature. The majority of dogs begin to exhibit clinical signs between 12 and 18 months of age. The disease progresses over 2-3 years and is manifested by uncoordinated gait, difficulty in swallowing, vision and hearing loss, rapid motion of the eyeball (nystagmus), increased nervousness, decreased interactions with other dogs in the household, a severe loss in the ability to recognize or respond to commands or his name, a loss in the ability to recognize the primary owner or other people in the household, an increased sensitivity to loud noises, circling behavior, increasing inappropriate vocalization, loss of ability to climb stairs or other obstacles, tremors, loss of coordination, severe loss of vision, persistent head movements, and bumping into obstacles. Enlargement of the nerves of the forelimbs can be detected. At a later stage, seizures and tremors develop.
Disease Cause: -
Disease Diagnose: Diagnosis of ceroid lipofuscinosis is based upon clinical signs, especially in a susceptible breed. Cerebrospinal fluid analysis is usually normal but may reveal increased protein levels with a normal cell count. Computed tomographic (CAT) or magnetic resonance imaging (MRI) of the brain may reveal brain atrophy and abnormal brain-tissue density.
Treat Method: Despite the poor outlook for this disorder, bone marrow transplantation and lysosomal enzyme replacement therapy have been successful in some human and animal cases. Gene transfer therapy is also being actively investigated and will hopefully be available in the future.
Breeder Advice: -
Disease Description Source: Link
Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
---|---|---|---|---|---|
Neuronal Ceroid Lipofuscinosis, generic | Neuronal ceroid lipofuscinosis | Autosomal Recessive | - | ||
Neuronal ceroid lipofuscinosis, 6 | - | Autosomal Recessive | CLN6 | ||
Neuronal ceroid lipofuscinosis, 2 | - | Autosomal Recessive | TPP1 | ||
Neuronal ceroid lipofuscinosis, 5 | - | Autosomal Recessive | CLN5 | ||
Lysosomal storage disease, ARSG related | Cerebellar cortical abiotrophy, cerebellar cortical degeneration, neuronal ceroid lipofuscinosis | Autosomal Recessive | ARSG | ||
Neuronal ceroid lipofuscinosis, 1 | - | Autosomal Recessive | PPT1 | ||
Neuronal ceroid lipofuscinosis, 10 | - | Autosomal Recessive | CTSD | ||
Neuronal ceroid lipofuscinosis, 8 | - | Autosomal Recessive | CLN8 | ||
Neuronal ceroid lipofuscinosis, 12 | - | Autosomal Recessive | ATP13A2 | ||
Neuronal ceroid lipofuscinosis, 7 | - | Autosomal Recessive | MFSD8 |
iDog Breed Number | Breed Name | Personality | Height | Weight | Breed Source |
---|---|---|---|---|---|
CB15 | Australian Cattle Dog | Alert, curious, and pleasant | 45.7-50.8 cm (male), 43.2-48.3 cm (female) | 15.9-22.7 kg | Australia |
CB44 | Border Terrier | Plucky, happy, affectionate | 30.5-38.1 cm | 5.9-7 kg (male), 5.2-6.4 kg (female) | United Kingdom (Scotland, England) |
CB72 | Chinese Crested | Lively, alert, and affectionate | 27.9-33 cm | 3.6-5.4 kg | Africa, Mexico |
CB95 | English Foxhound | Affectionate, Gentle, Sociable | 61 cm | 27.2-34 kg | United Kingdom (England) |
CB97 | English Springer Spaniel | Friendly, playful, obedient at home; hardworking and steady in the field | 50.8 cm (male), 48.3 cm (female) | 22.7 kg (male), 18.1 kg (female) | United Kingdom (England) |
CB112 | German Spitz | Devoted, Lively, Attentive | 12-15 inches | 24-26 pounds | Germany |
CB210 | Samoyed | Gentle, adaptable, eager, friendly; conservative but never shy | 53.3-59.7 cm (male), 48.3-53.3 cm (female) | 20.4-29.5 kg (male), 15.9-22.7 kg (female) | Russia |
CB245 | Tornjak(Bosnian and Herzegovinian–Croatian Shepherd Dog) | Calm, peaceful | Bosnia and Herzegovina, Croatia |
2021 |
Basak,I.,Wicky,H.E.,McDonald,K.O.,Xu,J.B.,Palmer,J.E.,Best,H.L.,Lefrancois,S.,Lee,S.Y.,Schoderboeck,L.,Hughes,S.M.: :
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis. Cell Mol Life Sci :, 2021. Pubmed reference: 33792748 . DOI: 10.1007/s00018-021-03813-x . |
2021 |
Soh,P.X.Y.,Hsu,W.T.,Khatkar,M.S.,Williamson,P.: :
Evaluation of genetic diversity and management of disease in Border Collie dogs. Sci Rep 11:6243, 2021. Pubmed reference: 33737533 . DOI: 10.1038/s41598-021-85262-x . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2020 |
Whiting,R.E.H.,Pearce,J.W.,Vansteenkiste,D.P.,Bibi,K.,Lim,S.,Robinson,G.O.,Castaner,L.J.,Sinclair,J.,Chandra,S.,Nguyen,A.,O'Neill,C.A.,Katz,M.L.: :
Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res :108130, 2020. Pubmed reference: 32622066 . DOI: 10.1016/j.exer.2020.108130 . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2020 |
Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020. Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 . |
2019 |
Villani,N.A.,Bullock,G.,Michaels,J.R.,Yamato,O.,O'Brien,D.P.,Mhlanga-Mutangadura,T.,Johnson,G.S.,Katz,M.L.: :
A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. Mol Genet Metab 127:107-115, 2019. Pubmed reference: 31101435 . DOI: 10.1016/j.ymgme.2019.04.003 . |
2019 |
Guo,J.,Johnson,G.S.,Cook,J.,Harris,O.K.,Mhlanga-Mutangadura,T.,Schnabel,R.D.,Jensen,C.A.,Katz,M.L.: :
Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported <i>CLN8</i> nonsense variant. Mol Genet Metab Rep 21:100521, 2019. Pubmed reference: 31687336 . DOI: 10.1016/j.ymgmr.2019.100521 . |
2019 |
Schmutz,I.,Jagannathan,V.,Bartenschlager,F.,Stein,V.M.,Gruber,A.D.,Leeb,T.,Katz,M.L.: :
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Mol Genet Metab 127:95-106, 2019. Pubmed reference: 30956123 . DOI: 10.1016/j.ymgme.2018.11.015 . |
2018 |
Lingaas,F.,Guttersrud,O.A.,Arnet,E.,Espenes,A.: :
Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Anim Genet 49:52-58, 2018. Pubmed reference: 29446145 . DOI: 10.1111/age.12629 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2017 |
Kolicheski,A.,BarnesHeller,H.L.,Arnold,S.,Schnabel,R.D.,Taylor,J.F.,Knox,C.A.,Mhlanga-Mutangadura,T.,O'Brien,D.P.,Johnson,G.S.,Dreyfus,J.,Katz,M.L.: :
Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. J Vet Intern Med 31:149-157, 2017. Pubmed reference: 28008682 . DOI: 10.1111/jvim.14632 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2017 |
Hirz,M.,Drögemüller,M.,Schänzer,A.,Jagannathan,V.,Dietschi,E.,Goebel,H.H.,Hecht,W.,Laubner,S.,Schmidt,M.J.,Steffen,F.,Hilbe,M.,Köhler,K.,Drögemüller,C.,Herden,C.: :
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. Mol Genet Metab 120:269-277, 2017. Pubmed reference: 28024876 . DOI: 10.1016/j.ymgme.2016.12.007 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2017 |
Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 . |
2016 |
Kohlschütter,A.,Schulz,A.: :
CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). Pediatr Endocrinol Rev 13 Suppl 1:682-8, 2016. Pubmed reference: 27491216 . |
2016 |
Phillips,J.E.,Gomer,R.H.: :
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. Ann Transl Med 4:S20, 2016. Pubmed reference: 27867988 . DOI: 10.21037/atm.2016.10.16 . |
2016 |
Tracy,C.J.,Whiting,R.E.,Pearce,J.W.,Williamson,B.G.,Vansteenkiste,D.P.,Gillespie,L.E.,Castaner,L.J.,Bryan,J.N.,Coates,J.R.,Jensen,C.A.,Katz,M.L.: :
Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res 152:77-87, 2016. Pubmed reference: 27637672 . DOI: 10.1016/j.exer.2016.09.003 . |
2016 |
Whiting,R.E.,Jensen,C.A.,Pearce,J.W.,Gillespie,L.E.,Bristow,D.E.,Katz,M.L.: :
Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease. Exp Eye Res 146:276-82, 2016. Pubmed reference: 27039708 . DOI: 10.1016/j.exer.2016.03.023 . |
2016 |
Kolicheski,A.,Johnson,G.S.,O'Brien,D.P.,Mhlanga-Mutangadura,T.,Gilliam,D.,Guo,J.,Anderson-Sieg,T.D.,Schnabel,R.D.,Taylor,J.F.,Lebowitz,A.,Swanson,B.,Hicks,D.,Niman,Z.E.,Wininger,F.A.,Carpentier,M.C.,Katz,M.L.: :
Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. J Vet Intern Med :, 2016. Pubmed reference: 27203721 . DOI: 10.1111/jvim.13971 . |
2016 |
Mizukami,K.,Yabuki,A.,Kohyama,M.,Kushida,K.,Rahman,M.M.,Uddin,M.M.,Sawa,M.,Yamato,O.: :
Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J 214:21-3, 2016. Pubmed reference: 27387721 . DOI: 10.1016/j.tvjl.2016.05.004 . |
2016 |
Nolte,A.,Bello,A.,Drögemüller,M.,Leeb,T.,Brockhaus,E.,Baumgärtner,W.,Wohlsein,P.: :
Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier. Tierarztl Prax Ausg K Kleintiere Heimtiere 44:, 2016. Pubmed reference: 27778018 . DOI: 10.15654/TPK-150766 . |
2016 |
Ashwini,A.,D'Angelo,A.,Yamato,O.,Giordano,C.,Cagnotti,G.,Harcourt-Brown,T.,Mhlanga-Mutangadura,T.,Guo,J.,Johnson,G.S.,Katz,M.L.: :
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. Mol Genet Metab 118:326-32, 2016. Pubmed reference: 27211611 . DOI: 10.1016/j.ymgme.2016.05.008 . |
2016 |
Faller,K.M.,Bras,J.,Sharpe,S.J.,Anderson,G.W.,Darwent,L.,Kun-Rodrigues,C.,Alroy,J.,Penderis,J.,Mole,S.E.,Gutierrez-Quintana,R.,Guerreiro,R.J.: :
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? J Neurosci Res 94:339-47, 2016. Pubmed reference: 26762174 . DOI: 10.1002/jnr.23710 . |
2016 |
Karli,P.,Oevermann,A.,Bauer,A.,Jagannathan,V.,Leeb,T.: :
MFSD8 single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis. Anim Genet :, 2016. Pubmed reference: 27145727 . DOI: 10.1111/age.12449 . |
2015 |
Katz,M.L.,Tecedor,L.,Chen,Y.,Williamson,B.G.,Lysenko,E.,Wininger,F.A.,Young,W.M.,Johnson,G.C.,Whiting,R.E.,Coates,J.R.,Davidson,B.L.: :
AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease. Sci Transl Med 7:313ra180, 2015. Pubmed reference: 26560358 . DOI: 10.1126/scitranslmed.aac6191 . |
2015 |
Whiting,R.E.,Pearce,J.W.,Castaner,L.J.,Jensen,C.A.,Katz,R.J.,Gilliam,D.H.,Katz,M.L.: :
Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res 134:123-32, 2015. Pubmed reference: 25697710 . DOI: 10.1016/j.exer.2015.02.012 . |
2015 |
Gilliam,D.,Kolicheski,A.,Johnson,G.S.,Mhlanga-Mutangadura,T.,Taylor,J.F.,Schnabel,R.D.,Katz,M.L.: :
Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab 115:101-9, 2015. Pubmed reference: 25934231 . DOI: 10.1016/j.ymgme.2015.04.001 . |
2015 |
Kowalewski,B.,Heimann,P.,Ortkras,T.,Lüllmann-Rauch,R.,Sawada,T.,Walkley,S.U.,Dierks,T.,Damme,M.: :
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). Hum Mol Genet 24:1856-68, 2015. Pubmed reference: 25452429 . DOI: 10.1093/hmg/ddu603 . |
2015 |
Guo,J.,O'Brien,D.P.,Mhlanga-Mutangadura,T.,Olby,N.J.,Taylor,J.F.,Schnabel,R.D.,Katz,M.L.,Johnson,G.S.: :
A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. BMC Vet Res 10:960, 2015. Pubmed reference: 25551667 . DOI: 10.1186/s12917-014-0181-z . |
2014 |
Whiting,R.E.,Narfström,K.,Yao,G.,Pearce,J.W.,Coates,J.R.,Castaner,L.J.,Jensen,C.A.,Dougherty,B.N.,Vuillemenot,B.R.,Kennedy,D.,O'Neill,C.A.,Katz,M.L.: :
Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Exp Eye Res 125:164-72, 2014. Pubmed reference: 24954537 . DOI: 10.1016/j.exer.2014.06.008 . |
2014 |
Kowalewski,B.,Lübke,T.,Kollmann,K.,Braulke,T.,Reinheckel,T.,Dierks,T.,Damme,M.: :
Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity. J Biol Chem 289:27992-8005, 2014. Pubmed reference: 25135642 . DOI: 10.1074/jbc.M114.584144 . |
2014 |
Guo,J.,Johnson,G.S.,Brown,H.A.,Provencher,M.L.,daCosta,R.C.,Mhlanga-Mutangadura,T.,Taylor,J.F.,Schnabel,R.D.,O'Brien,D.P.,Katz,M.L.: :
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. Mol Genet Metab 112:302-9, 2014. Pubmed reference: 24953404 . DOI: 10.1016/j.ymgme.2014.05.014 . |
2013 |
Hasegawa,D.,Tamura,S.,Nakamoto,Y.,Matsuki,N.,Takahashi,K.,Fujita,M.,Uchida,K.,Yamato,O.: :
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases. PLoS One 8:e83455, 2013. Pubmed reference: 24386203 . DOI: 10.1371/journal.pone.0083455 . |
2013 |
Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 . |
2013 |
Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 . |
2013 |
Whiting,R.E.,Narfström,K.,Yao,G.,Pearce,J.W.,Coates,J.R.,Castaner,L.J.,Katz,M.L.: :
Pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Exp Eye Res :, 2013. Pubmed reference: 24135299 . DOI: 10.1016/j.exer.2013.10.006 . |
2013 |
Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 . |
2013 |
Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 . |
2013 |
Broeckx,B.J.,Coopman,F.,Verhoeven,G.E.,VanHaeringen,W.,vandeGoor,L.,Bosmans,T.,Gielen,I.,Saunders,J.H.,Soetaert,S.S.,VanBree,H.,VanNeste,C.,VanNieuwerburgh,F.,VanRyssen,B.,Verelst,E.,VanSteendam,K.,Deforce,D.: :
The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013. Pubmed reference: 24069350 . DOI: 10.1371/journal.pone.0074811 . |
2013 |
Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 . |
2013 |
Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 . |
2013 |
Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 . |
2012 |
Mizukami,K.,Kawamichi,T.,Koie,H.,Tamura,S.,Matsunaga,S.,Imamoto,S.,Saito,M.,Hasegawa,D.,Matsuki,N.,Tamahara,S.,Sato,S.,Yabuki,A.,Chang,H.S.,Yamato,O.: :
Neuronal ceroid lipofuscinosis in Border Collie dogs in Japan: clinical and molecular epidemiological study (2000-2011). ScientificWorldJournal 2012:383174, 2012. Pubmed reference: 22919312 . DOI: 10.1100/2012/383174 . |
2012 |
Kowalewski,B.,Lamanna,W.C.,Lawrence,R.,Damme,M.,Stroobants,S.,Padva,M.,Kalus,I.,Frese,M.A.,Lübke,T.,Lüllmann-Rauch,R.,D'Hooge,R.,Esko,J.D.,Dierks,T.: :
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. Proc Natl Acad Sci U S A 109:10310-5, 2012. Pubmed reference: 22689975 . DOI: 10.1073/pnas.1202071109 . |
2011 |
Nakamoto,Y.,Yamato,O.,Uchida,K.,Nibe,K.,Tamura,S.,Ozawa,T.,Ueoka,N.,Nukaya,A.,Yabuki,A.,Nakaichi,M.: :
Neuronal ceroid-lipofuscinosis in longhaired Chihuahuas: clinical, pathologic, and MRI findings. J Am Anim Hosp Assoc 47:e64-70, 2011. Pubmed reference: 21730095 . DOI: 10.5326/JAAHA-MS-5564 . |
2011 |
Katz,ML.,Farias,FH.,Sanders,DN.,Zeng,R.,Khan,S.,Johnson,GS.,O'Brien,DP.: :
A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol 2011:198042, 2011. Pubmed reference: 21234413 . DOI: 10.1155/2011/198042 . |
2011 |
Sanders,D.N.,Kanazono,S.,Wininger,F.A.,Whiting,R.E.,Flournoy,C.A.,Coates,J.R.,Castaner,L.J.,O'Brien,D.P.,Katz,M.L.: :
A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis. Genes Brain Behav :, 2011. Pubmed reference: 21745338 . DOI: 10.1111/j.1601-183X.2011.00718.x . |
2011 |
Vuillemenot,B.R.,Katz,M.L.,Coates,J.R.,Kennedy,D.,Tiger,P.,Kanazono,S.,Lobel,P.,Sohar,I.,Xu,S.,Cahayag,R.,Keve,S.,Koren,E.,Bunting,S.,Tsuruda,L.S.,O'Neill,C.A.: :
Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis. Mol Genet Metab :, 2011. Pubmed reference: 21784683 . DOI: 10.1016/j.ymgme.2011.06.018 . |
2011 |
Mizukami,K.,Chang,H.S.,Yabuki,A.,Kawamichi,T.,Kawahara,N.,Hayashi,D.,Hossain,M.A.,Rahman,M.M.,Uddin,M.M.,Yamato,O.: :
Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan. J Vet Diagn Invest 23:1131-9, 2011. Pubmed reference: 22362793 . DOI: 10.1177/1040638711425590 . |
2011 |
Farias,F.H.,Zeng,R.,Johnson,G.S.,Wininger,F.A.,Taylor,J.F.,Schnabel,R.D.,McKay,S.D.,Sanders,D.N.,Lohi,H.,Seppälä,E.H.,Wade,C.M.,Lindblad-Toh,K.,O'Brien,D.P.,Katz,M.L.: :
A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis 42:468-74, 2011. Pubmed reference: 21362476 . DOI: 10.1016/j.nbd.2011.02.009 . |
2011 |
Wöhlke,A.,Philipp,U.,Bock,P.,Beineke,A.,Lichtner,P.,Meitinger,T.,Distl,O.: :
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PLoS Genet 7:e1002304, 2011. Pubmed reference: 22022275 . DOI: 10.1371/journal.pgen.1002304 . |
2010 |
Nibe,K.,Nakayama,H.,Uchida,K.: :
Comparative Study of Cerebellar Degeneration in Canine Neuroaxonal Dystrophy, Cerebellar Cortical Abiotrophy, and Neuronal Ceroid-Lipofuscinosis. J Vet Med Sci :, 2010. Pubmed reference: 20585192 . |
2010 |
Bellettato,C.M.,Scarpa,M.: :
Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis 33:347-62, 2010. Pubmed reference: 20429032 . DOI: 10.1007/s10545-010-9075-9 . |
2010 |
Abitbol,M.,Thibaud,J.L.,Olby,N.J.,Hitte,C.,Puech,J.P.,Maurer,M.,Pilot-Storck,F.,Hédan,B.,Dréano,S.,Brahimi,S.,Delattre,D.,André,C.,Gray,F.,Delisle,F.,Caillaud,C.,Bernex,F.,Panthier,J.J.,Aubin-Houzelstein,G.,Blot,S.,Tiret,L.: :
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 107:14775-80, 2010. Pubmed reference: 20679209 . DOI: 10.1073/pnas.0914206107 . |
2010 |
Bellettato,C.M.,Scarpa,M.: :
Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis 33:347-62, 2010. Pubmed reference: 20429032 . DOI: 10.1007/s10545-010-9075-9 . |
2010 |
Bellettato,C.M.,Scarpa,M.: :
Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis 33:347-62, 2010. Pubmed reference: 20429032 . DOI: 10.1007/s10545-010-9075-9 . |
2010 |
Sanders,DN.,Farias,FH.,Johnson,GS.,Chiang,V.,Cook,JR.,O'Brien,DP.,Hofmann,SL.,Lu,JY.,Katz,ML.: :
A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab 100:349-56, 2010. Pubmed reference: 20494602 . DOI: 10.1016/j.ymgme.2010.04.009 . |
2008 |
O'Brien,DP.,Katz,ML.: :
Neuronal ceroid lipofuscinosis in 3 Australian shepherd littermates. J Vet Intern Med 22:472-5, 2008. Pubmed reference: 18371036 . DOI: 10.1111/j.1939-1676.2008.0079.x . |
2008 |
O'Brien,DP.,Katz,ML.: :
Neuronal ceroid lipofuscinosis in 3 Australian shepherd littermates. J Vet Intern Med 22:472-5, 2008. Pubmed reference: 18371036 . DOI: 10.1111/j.1939-1676.2008.0079.x . |
2008 |
Katz,M.L.,Coates,J.R.,Cooper,J.J.,O'Brien,D.P.,Jeong,M.,Narfström,K.: :
Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis. Invest Ophthalmol Vis Sci 49:2686-95, 2008. Pubmed reference: 18344450 . DOI: 10.1167/iovs.08-1712 . |
2007 |
Narfström,K.,Wrigstad,A.,Ekesten,B.,Berg,A.L.: :
Neuronal ceroid lipofuscinosis: clinical and morphologic findings in nine affected Polish Owczarek Nizinny (PON) dogs. Vet Ophthalmol 10:111-20, 2007. Pubmed reference: 17324167 . DOI: 10.1111/j.1463-5224.2007.00527.x . |
2007 |
Katz,ML.,Sanders,DN.,Mooney,BP.,Johnson,GS.: :
Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis. J Inherit Metab Dis 30:952-63, 2007. Pubmed reference: 18004671 . DOI: 10.1007/s10545-007-0683-y . |
2006 |
Awano,T.,Katz,ML.,O'Brien,DP.,Sohar,I.,Lobel,P.,Coates,JR.,Khan,S.,Johnson,GC.,Giger,U.,Johnson,GS.: :
A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 89:254-60, 2006. Pubmed reference: 16621647 . DOI: 10.1016/j.ymgme.2006.02.016 . |
2006 |
Buijtels,J.J.,Kroeze,E.J.,Voorhout,G.,Schellens,C.J.,vanNes,J.J.: :
[Cerebellar cortical degeneration in an American Staffordshire terrier]. Tijdschr Diergeneeskd 131:518-22, 2006. Pubmed reference: 16916197 . |
2006 |
Awano,T.,Katz,ML.,O'Brien,DP.,Taylor,JF.,Evans,J.,Khan,S.,Sohar,I.,Lobel,P.,Johnson,GS.: :
A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87:341-8, 2006. Pubmed reference: 16386934 . DOI: 10.1016/j.ymgme.2005.11.005 . |
2005 |
Drogemulller,C.,Wohlke,A.,Distl,O.: :
Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs. Anim Genet 36:178-9, 2005. Pubmed reference: 15771740 . DOI: 10.1111/j.1365-2052.2005.01254.x . |
2005 |
Evans,J.,Katz,ML.,Levesque,D.,Shelton,GD.,deLahunta,A.,O'Brien,D.: :
A variant form of neuronal ceroid lipofuscinosis in American bulldogs. J Vet Intern Med 19:44-51, 2005. Pubmed reference: 15715047 . |
2005 |
Melville,SA.,Wilson,CL.,Chiang,CS.,Studdert,VP.,Lingaas,F.,Wilton,AN.: :
A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86:287-94, 2005. Pubmed reference: 16033706 . DOI: 10.1016/j.ygeno.2005.06.005 . |
2005 |
Evans,J.,Katz,ML.,Levesque,D.,Shelton,GD.,deLahunta,A.,O'Brien,D.: :
A variant form of neuronal ceroid lipofuscinosis in American bulldogs. J Vet Intern Med 19:44-51, 2005. Pubmed reference: 15715047 . |
2005 |
Wöhlke,A.,Distl,O.,Drögemüller,C.: :
The canine CTSD gene as a candidate for late-onset neuronal ceroid lipofuscinosis. Anim Genet 36:530-2, 2005. Pubmed reference: 16293139 . DOI: 10.1111/j.1365-2052.2005.01375.x . |
2005 |
Katz,ML.,Khan,S.,Awano,T.,Shahid,SA.,Siakotos,AN.,Johnson,GS.: :
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 327:541-7, 2005. Pubmed reference: 15629147 . DOI: 10.1016/j.bbrc.2004.12.038 . |
2005 |
Drogemulller,C.,Wohlke,A.,Distl,O.: :
Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs. Anim Genet 36:178-9, 2005. Pubmed reference: 15771740 . DOI: 10.1111/j.1365-2052.2005.01254.x . |
2005 |
Katz,ML.,Narfstrom,K.,Johnson,GS.,O'Brien,DP.: :
Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis. Am J Vet Res 66:67-76, 2005. Pubmed reference: 15691038 . |
2004 |
Koie,H.,Shibuya,H.,Sato,T.,Sato,A.,Nawa,K.,Nawa,Y.,Kitagawa,M.,Sakai,M.,Takahashi,T.,Yamaya,Y.,Yamato,O.,Watari,T.,Tokuriki,M.: :
Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a border collie. J Vet Med Sci 66:1453-6, 2004. Pubmed reference: 15585966 . |
2004 |
Koie,H.,Shibuya,H.,Sato,T.,Sato,A.,Nawa,K.,Nawa,Y.,Kitagawa,M.,Sakai,M.,Takahashi,T.,Yamaya,Y.,Yamato,O.,Watari,T.,Tokuriki,M.: :
Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a border collie. J Vet Med Sci 66:1453-6, 2004. Pubmed reference: 15585966 . |
2004 |
Olby,N.,Blot,S.,Thibaud,JL.,Phillips,J.,O'Brien,DP.,Burr,J.,Berg,J.,Brown,T.,Breen,M.: :
Cerebellar cortical degeneration in adult American Staffordshire Terriers. J Vet Intern Med 18:201-8, 2004. Pubmed reference: 15058771 . |
2004 |
Sisó,S.,Navarro,C.,Hanzlícek,D.,Vandevelde,M.: :
Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment. Acta Neuropathol 108:386-92, 2004. Pubmed reference: 15365721 . DOI: 10.1007/s00401-004-0902-7 . |
2003 |
Kuwamura,M.,Hattori,R.,Yamate,J.,Kotani,T.,Sasai,K.: :
Neuronal ceroid-lipofuscinosis and hydrocephalus in a chihuahua. J Small Anim Pract 44:227-30, 2003. Pubmed reference: 12779175 . |
2003 |
Rossmeisl,J.H.,Duncan,R.,Fox,J.,Herring,E.S.,Inzana,K.D.: :
Neuronal ceroid-lipofuscinosis in a Labrador Retriever. J Vet Diagn Invest 15:457-60, 2003. Pubmed reference: 14535546 . |
2003 |
Hanzlicek,D.,Kathmann,I.,Bley,T.,Srenk,P.,Botteron,C.,Gaillard,C.,Jaggy,A.: :
[Cerebellar cortical abiotrophy in American Staffordshire terriers: clinical and pathological description of 3 cases] Schweizer Archiv fur Tierheilkunde 145:369-75, 2003. Pubmed reference: 12951908 . |
2002 |
Vesa,J.,Chin,M.H.,Oelgeschläger,K.,Isosomppi,J.,DellAngelica,E.C.,Jalanko,A.,Peltonen,L.: :
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Mol Biol Cell 13:2410-20, 2002. Pubmed reference: 12134079 . DOI: 10.1091/mbc.E02-01-0031 . |
2002 |
Jolly,R.D.,Brown,S.,Das,A.M.,Walkley,S.U.: :
Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease). Neurochem Int 40:565-71, 2002. Pubmed reference: 11850114 . |
2002 |
Katz,M.L.,Sanders,D.A.,Sanders,D.N.,Hansen,E.A.,Johnson,G.S.: :
Assessment of plasma carnitine concentrations in relation to ceroid lipofuscinosis in Tibetan Terriers. Am J Vet Res 63:890-5, 2002. Pubmed reference: 12061538 . |
2001 |
Katz,M.L.,Shibuya,H.,Johnson,G.S.: :
Animal models for the ceroid lipofuscinoses. Adv Genet 45:183-203, 2001. Pubmed reference: 11332773 . |
2001 |
Katz,M.L.,Shibuya,H.,Johnson,G.S.: :
Animal models for the ceroid lipofuscinoses. Adv Genet 45:183-203, 2001. Pubmed reference: 11332773 . |
2001 |
Siakotos,A.N.,Hutchins,G.D.,Farlow,M.R.,Katz,M.L.: :
Assessment of dietary therapies in a canine model of Batten disease. Eur J Paediatr Neurol :151-6, 2001. Pubmed reference: 11588988 . |
2000 |
Minatel,L.,Underwood,S.C.,Carfagnini,J.C.: :
Ceroid-lipofuscinosis in a Cocker Spaniel dog Veterinary Pathology 37:488-490, 2000. Pubmed reference: 11055878 . |
1999 |
Franks,J.N.,Dewey,C.W.,Walker,M.A.,Storts,R.W.: :
Computed tomographic findings of ceroid lipofuscinosis in a dog Journal of the American Animal Hospital Association 35:430-435, 1999. Pubmed reference: 10493420 . |
1998 |
Lingaas,F.,Aarskaug,T.,Sletten,M.,Bjerkas,I.,Grimholt,U.,Moe,L.,Juneja,R.K.,Wilton,A.N.,Galibert,F.,Holmes,N.G.,Dolf,G.: :
Genetic markers linked to neuronal ceroid lipofuscinosis in English Setter dogs Animal Genetics 29:371-376, 1998. Pubmed reference: 9800325 . |
1998 |
Shibuya,H.,Liu,P.C.,Katz,M.L.,Siakotos,A.N.,Nonneman,D.J.,Johnson,G.S.: :
Coding sequence and exon/intron organization of the canine CLN3 (Batten-disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English Setter dogs Journal of Neuroscience Research 52:268-275, 1998. Pubmed reference: 9590435 . |
1998 |
Siakotos,A.N.,Blair,P.S.,Savill,J.D.,Katz,M.L.: :
Altered mitochondrial function in canine ceroid-lipofuscinosis Neurochemical Research 23:983-989, 1998. Pubmed reference: 9690741 . |
1997 |
Jolly,R.D.,Sutton,R.H.,Smith,R.I.E.,Palmer,D.N.: :
Ceroid-lipofuscinosis in Miniature Schnauzer dogs Australian Veterinary Journal 75:67, 1997. Pubmed reference: 9034507 . |
1997 |
Nilsson,S.E.,Wrigstad,A.: :
Electrophysiology in some animal and human hereditary diseases involving the retinal pigment epithelium. Eye (Lond) 11 ( Pt 5):698-706, 1997. Pubmed reference: 9474321 . DOI: 10.1038/eye.1997.180 . |
1997 |
Palmer,D.N.,Jolly,R.D.,vanMil,H.C.,Tyynelä,J.,Westlake,V.J.: :
Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease). Neuropediatrics 28:45-8, 1997. Pubmed reference: 9151321 . DOI: 10.1055/s-2007-973666 . |
1997 |
Palmer,D.N.,Tyynela,J.,Vanmil,H.C.,Westlake,V.J.,Jolly,R.D.: :
Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in Miniature Schnauzer dogs with ceroid-lipofuscinosis Journal of Inherited Metabolic Disease 20:74-84, 1997. Pubmed reference: 9061571 . |
1997 |
Nilsson,S.E.,Wrigstad,A.: :
Electrophysiology in some animal and human hereditary diseases involving the retinal pigment epithelium. Eye (Lond) 11 ( Pt 5):698-706, 1997. Pubmed reference: 9474321 . DOI: 10.1038/eye.1997.180 . |
1996 |
Cantile,C.,Buonaccorsi,A.,Pepe,V.,Arispici,M.: :
Juvenile neuronal ceroid-lipofuscinosis (Battens disease) in a poodle dog Progress in Veterinary Neurology 7:82-87, 1996. |
1996 |
Smith,R.,Sutton,R.,Jolly,R.,Smith,K.: :
A retinal degeneration associated with ceroid-lipofuscinosis in adult miniature Schnauzers. Vet. Comp. Opthalmol. 6:187-191, 1996. |
1995 |
Elleder,M.,Drahota,Z.,Lisa,V.,Mares,V.,Mandys,V.,Muller,J.,Palmer,D.N.: :
Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): Testing their lysosomal degradability by normal and batten cells American Journal of Medical Genetics 57:213-221, 1995. Pubmed reference: 7668332 . DOI: 10.1002/ajmg.1320570220 . |
1995 |
Jolly,R.D.: :
Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview. Am J Med Genet 57:307-11, 1995. Pubmed reference: 7668352 . DOI: 10.1002/ajmg.1320570240 . |
1995 |
March,P.A.,Wurzelmann,S.,Walkley,S.U.: :
Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease American Journal of Medical Genetics 57:204-212, 1995. Pubmed reference: 7668331 . DOI: 10.1002/ajmg.1320570219 . |
1995 |
Narfström,K.,Wrigstad,A.: :
Clinical, electrophysiological, and morphological findings in a case of neuronal ceroid lipofuscinosis in the Polish Owczarek Nizinny (PON) dog. Vet Q 17 Suppl 1:S46, 1995. Pubmed reference: 7571313 . |
1995 |
Wrigstad,A.,Nilsson,S.E.G.,Dubielzig,R.,Narfstrom,K.: :
Neuronal ceroid lipofuscinosis in the Polish Owczarek Nizinny (PON) dog - a retinal study Documenta Ophthalmologica 91:33-47, 1995. Pubmed reference: 8861635 . |
1995 |
Katz,M.L.,Siakotos,A.N.: :
Canine hereditary ceroid-lipofuscinosis: Evidence for a defect in the carnitine biosynthetic pathway American Journal of Medical Genetics 57:266-271, 1995. Pubmed reference: 7668343 . DOI: 10.1002/ajmg.1320570231 . |
1995 |
Kitani,K.,Senda,M.,Toyama,H.,Miyasaka,K.,Kanai,S.,Ohta,M.,Ivy,G.O.,Koppang,N.: :
Decline in glucose metabolism in the brain in neuronal ceroid lipofuscinosis (NCL) in English setter--evidence by positron emission tomography (PET). Gerontology 41 Suppl 2:249-57, 1995. Pubmed reference: 8821336 . |
1995 |
Savill,J.,Azzarelli,B.,Siakotos,A.N.: :
Early detection of canine ceroid-lipofuscinosis (CCL): An ultrastructural study American Journal of Medical Genetics 57:250-253, 1995. Pubmed reference: 7668340 . DOI: 10.1002/ajmg.1320570228 . |
1995 |
Siakotos,A.N.,Schnippel,K.,Lin,R.C.,Vankuijk,F.J.G.M.: :
Biosynthesis and metabolism of 4-hydroxynonenal in canine ceroid-lipofuscinosis American Journal of Medical Genetics 57:290-293, 1995. Pubmed reference: 7668347 . DOI: 10.1002/ajmg.1320570235 . |
1994 |
Jolly,R.D.,Palmer,D.N.,Studdert,V.P.,Sutton,R.H.,Kelly,W.R.,Koppang,N.,Dahme,G.,Hartley,W.J.,Patterson,J.S.,Riis,R.C.: :
Canine ceroid-lipofuscinoses: A review and classification Journal of Small Animal Practice 35:299-306, 1994. |
1994 |
Jolly,RD.,Hartley,WJ.,Jones,BR.,Johnstone,AC.,Palmer,AC.,Blakemore,WF.: :
Generalised ceroid-lipofuscinosis and brown bowel syndrome in Cocker spaniel dogs. N Z Vet J 42:236-9, 1994. Pubmed reference: 16031790 . DOI: 10.1080/00480169.1994.35830 . |
1994 |
Dunn,W.A.,Raizada,M.K.,Vogt,E.S.,Brown,E.A.: :
Growth factor-induced neurite growth in primary neuronal cultures of dogs with neuronal ceroid lipofuscinosis International Journal of Developmental Neuroscience 12:185-196, 1994. Pubmed reference: 7942092 . |
1994 |
Katz,M.L.,Christianson,J.S.,Norbury,N.E.,Gao,C.L.,Siakotos,A.N.,Koppang,N.: :
Lysine Methylation of Mitochondrial ATP Synthase Subunit-c Stored in Tissues of Dogs with Hereditary Ceroid Lipofuscinosis Journal of Biological Chemistry 269:9906-9911, 1994. Pubmed reference: 8144584 . |
1993 |
Armstrong,D.,Ulshafer,R.: :
Invitro Glycosylation in the Retina in Canine Ceroid- Lipofuscinosis Annals of Clinical and Laboratory Science 23:369-376, 1993. Pubmed reference: 8239484 . |
1993 |
Dawson,G.,Kilkus,J.,Siakotos,A.N.: :
Reduced Phospholipase Activity, Peptide Storage and the Pathogenesis of Canine Neuronal Ceroid-Lipofuscinosis Journal of Inherited Metabolic Disease 16:330-334, 1993. Pubmed reference: 8411992 . |
1993 |
Siakotos,A.N.,Vankuijk,F.J.G.M.,Tischfield,J.A.: :
Elevated Levels of Neutrophil 4-Hydroxynonenal in Canine Neuronal Ceroid-Lipofuscinosis and Human Immortalized Lymphocytes of NCL Patients Journal of Inherited Metabolic Disease 16:323-329, 1993. Pubmed reference: 8411991 . |
1992 |
Jolly,R.D.,Martinus,R.D.,Palmer,D.N.: :
Sheep and Other Animals with Ceroid-Lipofuscinoses - Their Relevance to Batten Disease American Journal of Medical Genetics 42:609-614, 1992. Pubmed reference: 1535180 . DOI: 10.1002/ajmg.1320420436 . |
1992 |
Taylor,R.M.,Farrow,B.R.H.: :
Ceroid Lipofuscinosis in the Border Collie Dog - Retinal Lesions in an Animal Model of Juvenile Batten Disease American Journal of Medical Genetics 42:622-627, 1992. Pubmed reference: 1319117 . DOI: 10.1002/ajmg.1320420438 . |
1992 |
Banerjee,P.,Dasgupta,A.,Siakotos,A.N.,Dawson,G.: :
Evidence for lipase abnormality: high levels of free and triacylglycerol forms of unsaturated fatty acids in neuronal ceroid-lipofuscinosis tissue. Am J Med Genet 42:549-54, 1992. Pubmed reference: 1609837 . DOI: 10.1002/ajmg.1320420426 . |
1992 |
Goebel,H.H.: :
Retina in Various Animal Models of Neuronal Ceroid- Lipofuscinosis American Journal of Medical Genetics 42:605-608, 1992. Pubmed reference: 1609843 . DOI: 10.1002/ajmg.1320420435 . |
1992 |
Koppang,N.: :
English Setter Model and Juvenile Ceroid-Lipofuscinosis in Man American Journal of Medical Genetics 42:599-604, 1992. Pubmed reference: 1609842 . DOI: 10.1002/ajmg.1320420434 . |
1992 |
Alroy,J.,Schelling,SH.,Thalhammer,JG.,Raghavan,SS.,Natowicz,MR.,Prence,EM.,Orgad,U.: :
Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies. Acta Neuropathol 84:658-63, 1992. Pubmed reference: 1471473 . |
1992 |
Riis,R.C.,Cummings,J.F.,Loew,E.R.,Delahunta,A.: :
Tibetan Terrier Model of Canine Ceroid Lipofuscinosis American Journal of Medical Genetics 42:615-621, 1992. Pubmed reference: 1609844 . DOI: 10.1002/ajmg.1320420437 . |
1991 |
Studdert,V.P.,Mitten,R.W.: :
Clinical Features of Ceroid Lipofuscinosis in Border Collie Dogs Australian Veterinary Journal 68:137-140, 1991. Pubmed reference: 2069541 . |
1990 |
Sisk,D.B.,Levesque,D.C.,Wood,P.A.,Styer,E.L.: :
Clinical and pathologic features of ceroid lipofuscinosis in two Australian cattle dogs. J Am Vet Med Assoc 197:361-4, 1990. Pubmed reference: 2391273 . |
1990 |
Deeg,H.J.,Shulman,H.M.,Albrechtsen,D.,Graham,T.C.,Storb,R.,Koppang,N.: :
Battens Disease - Failure of Allogeneic Bone Marrow Transplantation to Arrest Disease Progression in a Canine Model Clinical Genetics 37:264-270, 1990. Pubmed reference: 2350897 . |
1988 |
Goebel,H.H.,Bilzer,T.,Dahme,E.,Malkusch,F.: :
Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis. Am J Med Genet Suppl 5:127-39, 1988. Pubmed reference: 3146312 . |
1988 |
Taylor,R.M.,Farrow,B.R.: :
Ceroid-lipofuscinosis in border collie dogs. Acta Neuropathol 75:627-31, 1988. Pubmed reference: 3376765 . |
1988 |
Koppang,N.: :
The English setter with ceroid-lipofuscinosis: a suitable model for the juvenile type of ceroid-lipofuscinosis in humans. Am J Med Genet Suppl 5:117-25, 1988. Pubmed reference: 3146311 . |
1988 |
Siakotos,A.N.,Bray,R.,Dratz,E.,vanKuijk,F.,Sevanian,A.,Koppang,N.: :
4-Hydroxynonenal: a specific indicator for canine neuronal-retinal ceroidosis. Am J Med Genet Suppl 5:171-81, 1988. Pubmed reference: 3146315 . |
1987 |
Koppang,N.: :
Hereditary ceroid lipofuscinosis in English Setter dogs. A model for human neuronal ceroid lipofuscinosis and aging Advances in Biosciences 64:185-195, 1987. |
1987 |
Wood,P.A.,Sisk,D.B.,Styer,E.,Baker,H.: :
Animal model: ceroidis (ceroid-lipofuscinosis) in Australian cattle dogs American Journal of Medical Genetics 26:891-898, 1987. Pubmed reference: 3591832 . |
1987 |
Koppang,N.: :
Hereditary ceroid lipofuscinosis in English setter dogs. A model for human neuronal ceroid-lipofuscinosis and aging. Advances in Biosciences 64:185-195, 1987. |
1986 |
Goebel,H.H.,Dahme,E.: :
Ultrastructure of retinal pigment epithelial and neural cells in the neuronal ceroid-lipofuscinosis affected Dalmatian dog. Retina 6:179-87, 1986. Pubmed reference: 3025985 . |
1985 |
Umemura,T.,Sato,H.,Goryo,M.,Itakura,C.: :
Generalized lipofuscinosis in a dog. Nihon Juigaku Zasshi 47:673-7, 1985. Pubmed reference: 4046273 . |
1984 |
Keller,R.K.,Armstrong,D.,Crum,F.C.,Koppang,N.: :
Dolichol and dolichyl phosphate levels in brain tissue from English setters with ceroid lipofuscinosis. J Neurochem 42:1040-7, 1984. Pubmed reference: 6321656 . |
1983 |
Nilsson,S.E.,Armstrong,D.,Koppang,N.,Persson,P.,Milde,K.: :
Studies on the retina and the pigment epithelium in hereditary canine ceroid lipofuscinosis. IV. Changes in the electroretinogram and the standing potential of the eye. Invest Ophthalmol Vis Sci 24:77-84, 1983. Pubmed reference: 6681808 . |
1982 |
Appleby,E.C.,Longstaffe,J.A.,Bell,F.R.: :
Ceroid-lipofuscinosis in two Saluki dogs. J Comp Pathol 92:375-80, 1982. Pubmed reference: 6890561 . |
1982 |
Armstrong,D.,Koppang,N.,Nilsson,S.E.: :
Canine hereditary ceroid lipofuscinosis European Neurology 21:147-156, 1982. Pubmed reference: 7117302 . |
1982 |
NimmoWilkie,JS.,Hudson,EB.: :
Neuronal and generalized ceroid-lipofuscinosis in a cocker spaniel. Vet Pathol 19:623-8, 1982. Pubmed reference: 6890736 . |
1980 |
Armstrong,D.,Neville,H.,Siakotos,A.,Wilson,B.,Wehling,C.,Koppang,N.: :
Morphological and biochemical abnormalities in a model of retinal degeneration: Canine ceroid-lipofuscinosis (CCL). Neurochem Int 1C:405-26, 1980. Pubmed reference: 20487751 . |
1980 |
Neville,H.,Armstrong,D.,Wilson,B.,Koppang,N.,Wehling,C.: :
Studies on the retina and the pigment epithelium in hereditary canine ceroid lipofuscinosis. III. Morphologic abnormalities in retinal neurons and retinal pigmented epithelial cells. Invest Ophthalmol Vis Sci 19:75-86, 1980. Pubmed reference: 7350137 . |
1975 |
Berson,E.L.,Watson,G.: :
Electroretinograms in English Setters with neuronal ceroid lipofuscinosis Investigative Ophthalmology and Visual Science 19:87-90, 1975. |
1973 |
Koppang,N.: :
Canine ceroid-lipofuscinosis. A model for human neuronal ceroid-lipofuscinosis and aging Mech Ageing Dev 2:421-445, 1973. Pubmed reference: 4134804 . |
1970 |
Koppang,N.: :
Neuronal ceroid-lipofuscinosis in English setters Journal of Small Animal Practice 10:639-644, 1970. |
1965 |
Fankhauser,R.: :
[Degenerative lipoidosis of the central nervous system in two dogs.] Degenerative, lipoidiotische Erkrankung des zentral nervens system bei zwie hunden Schweizer Archiv fur Tierheilkunde 107:73-87, 1965. |