PDF herunterladen
Tierarztl Prax Ausg K Kleintiere Heimtiere 2016; 44(06): 431-437
DOI: 10.15654/TPK-150766
Kasuistik
Schattauer GmbH

Neuronal ceroid lipofuscinosis in an adult American Staffordshire Terrier

Artikel in mehreren Sprachen: deutsch | English
Anna Nolte
1   Institut für Pathologie, Tierärztliche Hochschule Hannover
,
Aimara Bello
1   Institut für Pathologie, Tierärztliche Hochschule Hannover
,
Michaela Drögemüller
2   Institut für Genetik, Vetsuisse-Fakultät der Universität Bern
,
Tosso Leeb
2   Institut für Genetik, Vetsuisse-Fakultät der Universität Bern
,
Eva Brockhaus
3   Tierarztpraxis, Eckernförde
,
Wolfgang Baumgärtner
1   Institut für Pathologie, Tierärztliche Hochschule Hannover
,
Peter Wohlsein
1   Institut für Pathologie, Tierärztliche Hochschule Hannover
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Received: 15. September 2015

Accepted after major revision: 07. Juni 2016

Publikationsdatum:
20. Dezember 2017 (online)

Auch verfügbar auf
    Lizenzen und Reprints

Summary

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.

Keywords

Dog - cerebellar degeneration - lysosomal storage disease - genetic disorder
 

  • Literatur

  • 1 Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M. et al. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci USA 2010; 107 (33) 14775-14780.
    CrossrefPubMedGoogle Scholar
  • 2 Appleby EC, Longstaffe JA, Bell FR. Ceroid-lipofuscinosis in two Saluki dogs. J Comp Pathol 1982; 92 (03) 375-380.
    CrossrefPubMedGoogle Scholar
  • 3 Awano T, Katz ML, O‘Brien DP, Sohar I, Lobel P, Coates JR. 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 (03) 254-260.
    CrossrefPubMedGoogle Scholar
  • 4 Awano T, Katz ML, O‘Brien DP, Taylor JF, Evans J, Khan S. et al. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 2006; 87 (04) 341-348.
    CrossrefPubMedGoogle Scholar
  • 5 Bellettato CM, Scarpa M. Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis 2010; 33 (04) 347-362.
    CrossrefPubMedGoogle Scholar
  • 6 Bertalan A, Glass EN, Kent M, De LaHunta A, Bradley C. Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J 2014; 92 (09) 339-342.
    CrossrefPubMedGoogle Scholar
  • 7 Diez-Roux G, Ballabio A. Sulfatases and human disease. Annu Rev Genomics Hum Genet 2005; 6: 355-379.
    CrossrefPubMedGoogle Scholar
  • 8 Faller KM, Bras J, Sharpe SJ, Anderson GW, Darwent L, Kun-Rodrigues C. et al. The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?. J Neurosci Res 2016; 94 (04) 339-347.
    CrossrefPubMedGoogle Scholar
  • 9 Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD. et al. A truncating mutation in ATP13A2 is responsible for adult-onset neuro- nal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis 2011; 42 (03) 468-474.
    CrossrefPubMedGoogle Scholar
  • 10 Frese MA, Schulz S, Dierks T. ArylsulfataseG, a novel lysosomal sulfatase. J Biol Chem 2008; 283 (17) 11388-11395.
    CrossrefPubMedGoogle Scholar
  • 11 Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD. et al. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab 2015; 115 (23) 101-109.
    CrossrefPubMedGoogle Scholar
  • 12 Goebel HH, Bilzer T, Dahme E, Malkusch F. Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis. Am J Med Genet Suppl 1988; 5: 127-139.
    PubMedGoogle Scholar
  • 13 Guo J, O‘Brien DP, Mhlanga-Mutangadura T, Olby NJ, Taylor JF, Schnabel RD. et al. 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 2014; 10: 960.
    PubMedGoogle Scholar
  • 14 Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta 2006; 1762 (10) 850-856.
    CrossrefPubMedGoogle Scholar
  • 15 Hanzlicek D, Kathmann I, Bley T, Srenk P, Botteron C, Gaillard C. et al. [Cerebellar cortical abiotrophy in American Staffordshire terriers: clinical and pathological description of 3 cases]. Schweiz Arch Tierheilkd 2003; 145 (08) 369-375.
    CrossrefPubMedGoogle Scholar
  • 16 Henke D, Bottcher P, Doherr MG, Oechtering G, Flegel T. Computer-assisted magnetic resonance imaging brain morphometry in American Staffordshire Terriers with cerebellar cortical degeneration. J Vet Intern Med 2008; 22 (04) 969-975.
    CrossrefPubMedGoogle Scholar
  • 17 Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 2009; 1793 (04) 697-709.
    CrossrefPubMedGoogle Scholar
  • 18 Jolly RD, Sutton RH, Smith RI, Palmer DN. Ceroid-lipofuscinosis in miniature Schnauzer dogs. Aust Vet J 1997; 75 (01) 67.
    CrossrefPubMedGoogle Scholar
  • 19 Karli P, Karol A, Oevermann A, Drogemuller C, Gorgas D, Henke D. [The canine neuronal ceroid-lipofuscinosis: a review]. Schweiz Arch Tierheilkd 2014; 156 (09) 417-423.
    CrossrefPubMedGoogle Scholar
  • 20 Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS. et al. A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol. 2011 2011 198042.
    PubMedGoogle Scholar
  • 21 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 2005; 327 (02) 541-547.
    CrossrefPubMedGoogle Scholar
  • 22 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 2005; 66 (01) 67-76.
    CrossrefPubMedGoogle Scholar
  • 23 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 2007; 30 (06) 952-963.
    CrossrefPubMedGoogle Scholar
  • 24 Kegler K, Spitzbarth I, Imbschweiler I, Wewetzer K, Baumgartner W, Seehusen F. Contribution of Schwann cells to remyelination in a naturally occurring canine model of CNS neuroinflammation. PLoS One 2015; 10 (07) e0133916.
    CrossrefPubMedGoogle Scholar
  • 25 Koie H, Shibuya H, Sato T, Sato A, Nawa K, Nawa Y. et al. Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a border collie. J Vet Med Sci 2004; 66 (11) 1453-1456.
    CrossrefPubMedGoogle Scholar
  • 26 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 1988; 5: 117-125.
    PubMedGoogle Scholar
  • 27 Lorenz MD, Coates J, Kent M. Handbook of Veterinary Neurology. 5th edn. St. Louis, USA: Elsevier Health Sciences; 2011
  • 28 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 2005; 86 (03) 287-294.
    CrossrefPubMedGoogle Scholar
  • 29 Minatel L, Underwood SC, Carfagnini JC. Ceroid-lipofuscinosis in a Cocker Spaniel dog. Vet Pathol 2000; 37 (05) 488-490.
    CrossrefPubMedGoogle Scholar
  • 30 Olby N, Blot S, Thibaud JL, Phillips J, O’Brien DP, Burr J. et al. Cerebellar cortical degeneration in adult American Staffordshire Terriers. J Vet Intern Med 2004; 18 (02) 201-208.
    CrossrefPubMedGoogle Scholar
  • 31 Sanders DN, Farias FH, Johnson GS, Chiang V, Cook JR, O’Brien DP. et al. A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab 2010; 100 (04) 349-356.
    CrossrefPubMedGoogle Scholar
  • 32 Sisk DB, Levesque DC, Wood PA, Styer EL. Clinical and pathologic features of ceroid lipofuscinosis in two Australian cattle dogs. J Am Vet Med Assoc 1990; 197 (03) 361-364.
    PubMedGoogle Scholar
  • 33 Siso S, Navarro C, Hanzlicek D, Vandevelde M. Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment. Acta Neuropathol 2004; 108 (05) 386-392.
    CrossrefPubMedGoogle Scholar
  • 34 Speciale J, de Lahunta A. Cerebellar degeneration in a mature Staffordshire terrier. J Am Anim Hosp Assoc 2003; 39 (05) 459-462.
    CrossrefPubMedGoogle Scholar
  • 35 Vandevelde M, Higgins R, Oevermann A. Veterinary Neuropathology: Essentials of Theory and Practice.. Oxford: Wiley; 2012
  • 36 Wohlke A, Philipp U, Bock P, Beineke A, Lichtner P, Meitinger T. et al. 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 2011; 7 (10) e1002304.
    CrossrefPubMedGoogle Scholar