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EndNote
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1. Jolly RD, Palmer DN, Studdert VP, et al. Canine ceroid-lipofuscinoses: a review and classification. J Small Anim Pract 1994;35:299–306.
-
2. Anderson GW, Goebel HH, Simonati A. Human pathology in NCL. Biochim Biophys Acta 2013;1832:1807–1826.
-
3. Palmer DN, Tammen I, Drogemuller C, et al. Chapter 18: large animal models. In: Mole SE, Williams RE, Goebel HH, eds. The neuronal ceroid lipofuscinosis (Batten diseases). 2nd ed. Oxford, England: Oxford University Press, 2011;284–320.
-
4. Jadav RH, Sinha S, Yasha TC, et al. Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. Pediatr Neurol 2014;50:85–95.
-
5. Palmer DN, Jolly RD, van Mil HC, et al. Different patterns of hydrophobic protein storage in different forms of neuronal ceroid-lipofuscinosis (NCL, Batten disease). Neuropediatrics 1997;28:45–48.
-
6. Tyynelä J, Suopanki J, Baumann M, et al. Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL). Neuropediatrics 1997;28:49–52.
-
7. Palmer DN, Tyynelä J, van Mil HC, et al. Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in Miniature Schnauzer dogs with ceroid-lipofuscinosis. J Inherit Metab Dis 1997;20:74–84.
-
8. Melville SA, Wilson CL, Chiang CS, et al. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border Collie dogs. Genomics 2005;86:287–294.
-
9. Katz ML, Khan S, Awano T, et al. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 2005;327:541–547.
-
10. Awano T, Katz ML, O'Brien DP, et al. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 2006;87:341–348.
-
11. Awano T, Katz ML, O'Brien DP, et al. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 2006;89:254–260.
-
12. Abitbol M, Thibaud JL, Olby NJ, et al. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 2010;107:14775–14780.
-
13. Farias FH, Zeng R, Johnson GS, et al. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan Terriers. Neurobiol Dis 2011;42:468–474.
-
14. Franks JN, Dewey CW, Walker MA, et al. Computed tomographic findings of ceroid lipofuscinosis in a dog. J Am Anim Hosp Assoc 1999;35:430–435.
-
15. Rossmeisl JH, Duncan R, Fox J, et al. Neuronal ceroid-lipofuscinosis in a Labrador Retriever. J Vet Diagn Invest 2003;15:457–460.
-
16. Evans J, Katz ML, Levesque D, et al. A variant form of neuronal ceroid lipofuscinosis in American Bulldogs. J Vet Intern Med 2005;19:44–51.
-
17. Kuwamura M, Hattori R, Yamate J, et al. Neuronal ceroid-lipofuscinosis and hydrocephalus in a Chihuahua. J Small Anim Pract 2003;44:227–230.
-
18. Koie H, Shibuya H, Sato T, et al. Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a Border Collie. J Vet Med Sci 2004;66:1453–1456.
-
19. O'Brien DP, Katz ML. Neuronal ceroid lipofuscinosis in 3 Australian Shepherd littermates. J Vet Intern Med 2008;22:472–475.
-
20. Asakawa MG, MacKillop E, Olby NJ, et al. Imaging diagnosis-neuronal ceroid lipofuscinosis with a chronic subdural hematoma. Vet Radiol Ultrasound 2010;51:155–158.
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Pathology in Practice
Anna Gardini
 DVM, PhD
Anna Gardini
Neurology and Neurosurgery Department, Dick White Referrals, Six Mile Bottom, CB8 0UH, England.
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Simone de Brot
 DVM
Simone de Brot
Pathology Department, School of Veterinary Medicine and Science, University of Nottingham, Sutton Bonington Campus, Sutton Bonington, LE12 5RD, England.
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Giunio Bruto Cherubini
 DVM
Giunio Bruto Cherubini
Neurology and Neurosurgery Department, Dick White Referrals, Six Mile Bottom, CB8 0UH, England.
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ProCite
RefWorks
Reference Manager
BibTeX
Zotero
EndNote
-
1. Jolly RD, Palmer DN, Studdert VP, et al. Canine ceroid-lipofuscinoses: a review and classification. J Small Anim Pract 1994;35:299–306.
-
2. Anderson GW, Goebel HH, Simonati A. Human pathology in NCL. Biochim Biophys Acta 2013;1832:1807–1826.
-
3. Palmer DN, Tammen I, Drogemuller C, et al. Chapter 18: large animal models. In: Mole SE, Williams RE, Goebel HH, eds. The neuronal ceroid lipofuscinosis (Batten diseases). 2nd ed. Oxford, England: Oxford University Press, 2011;284–320.
-
4. Jadav RH, Sinha S, Yasha TC, et al. Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. Pediatr Neurol 2014;50:85–95.
-
5. Palmer DN, Jolly RD, van Mil HC, et al. Different patterns of hydrophobic protein storage in different forms of neuronal ceroid-lipofuscinosis (NCL, Batten disease). Neuropediatrics 1997;28:45–48.
-
6. Tyynelä J, Suopanki J, Baumann M, et al. Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL). Neuropediatrics 1997;28:49–52.
-
7. Palmer DN, Tyynelä J, van Mil HC, et al. Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in Miniature Schnauzer dogs with ceroid-lipofuscinosis. J Inherit Metab Dis 1997;20:74–84.
-
8. Melville SA, Wilson CL, Chiang CS, et al. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border Collie dogs. Genomics 2005;86:287–294.
-
9. Katz ML, Khan S, Awano T, et al. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 2005;327:541–547.
-
10. Awano T, Katz ML, O'Brien DP, et al. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 2006;87:341–348.
-
11. Awano T, Katz ML, O'Brien DP, et al. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 2006;89:254–260.
-
12. Abitbol M, Thibaud JL, Olby NJ, et al. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 2010;107:14775–14780.
-
13. Farias FH, Zeng R, Johnson GS, et al. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan Terriers. Neurobiol Dis 2011;42:468–474.
-
14. Franks JN, Dewey CW, Walker MA, et al. Computed tomographic findings of ceroid lipofuscinosis in a dog. J Am Anim Hosp Assoc 1999;35:430–435.
-
15. Rossmeisl JH, Duncan R, Fox J, et al. Neuronal ceroid-lipofuscinosis in a Labrador Retriever. J Vet Diagn Invest 2003;15:457–460.
-
16. Evans J, Katz ML, Levesque D, et al. A variant form of neuronal ceroid lipofuscinosis in American Bulldogs. J Vet Intern Med 2005;19:44–51.
-
17. Kuwamura M, Hattori R, Yamate J, et al. Neuronal ceroid-lipofuscinosis and hydrocephalus in a Chihuahua. J Small Anim Pract 2003;44:227–230.
-
18. Koie H, Shibuya H, Sato T, et al. Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a Border Collie. J Vet Med Sci 2004;66:1453–1456.
-
19. O'Brien DP, Katz ML. Neuronal ceroid lipofuscinosis in 3 Australian Shepherd littermates. J Vet Intern Med 2008;22:472–475.
-
20. Asakawa MG, MacKillop E, Olby NJ, et al. Imaging diagnosis-neuronal ceroid lipofuscinosis with a chronic subdural hematoma. Vet Radiol Ultrasound 2010;51:155–158.
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