Animal Models of Neurological Disorders

  • Mary Jeanne KallmanEmail author
Reference work entry


Huntington’s disease is a neurological disorder characterized by loss of striatal neurons and the motor signs of dyskinesia, dystonia, and chorea, as well as complex neuropsychiatric changes (Hayden 1981). Brouillet et al. (1999) reviewed the different aspects of the replicating Huntington’s disease phenotype in experimental animals. There is at present no effective therapy against this disorder. The gene responsible for the disease has been cloned and the molecular defect identified as an expanded polyglutamine tract in the N-terminal region of a protein, named huntingtin (Landles and Bates 2004; Li and Li 2004). Huntingtin interacts with a number of proteins and it has been suggested that alterations in glycolysis, vesicle trafficking, or apoptosis play a role in the pathophysiology of Huntington’s disease.


Amyotrophic Lateral Sclerosis Down Syndrome Spinal Muscular Atrophy Muscular Atrophy Cerebellar Ataxia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References and Further Reading

Huntington’s Disease

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Nitropropionic Acid Animal Model of Huntington’s Disease

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Quinolinic Acid Rat Model of Huntington’s Disease

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Transgenic Animal Models of Huntington’s Disease

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Amyotrophic Lateral Sclerosis

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Spinal Muscular Atrophy

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Spinal and Bulbar Muscular Atrophy

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Models of Down Syndrome

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Models of Wilson’s Disease

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Models of Cerebellar Ataxia

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Models of Niemann-Pick Syndrome

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Models of Gangliosidosis

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  32. Yamato O, Masuoka Y, Yonemura M, Hatakeyama A, Satoh H, Kobayashi A, Nakayama M, Asano T, Shoda T, Yamasaki M, Ochiai K, Umemura T, Maede Y (2003) Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal β-galactosidase: a canine model of human GM1 gangliosidosis. J Vet Med Sci 65:213–217PubMedGoogle Scholar
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Models of Mucopolysaccharidosis

  1. Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB (2000) Canine heparin sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics 68:80–84PubMedGoogle Scholar
  2. Aronovich EL, Johnston JM, Wang P, Giger U, Whitley CB (2001) Molecular basis for mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. Genomics 74:299–305PubMedGoogle Scholar
  3. Bhattacharyya R, Gliddon B, Beccarai T, Hopwood JJ, Stamley P (2001) A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant. Glycobiology 11:99–103PubMedGoogle Scholar
  4. Bhaumik M, Muller VJ, Rozaklis T, Johnson L, Dobrenis K, Bhattacharyya R, Wurzelmann S, Finamore P, Hopwood JJ, Walkley SU, Stanley P (1999) A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 9:1389–1396PubMedGoogle Scholar
  5. Di Natale P, Di Domenico C, Gargiulo N, Castaldo S, Gonzalez Y, Reyero E, Mithbaokar P, de Felice M, Follenzi A, Naldini L, Villani GR (2005) Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral NAGLU vector. Biochem J 388:639–646PubMedCentralPubMedGoogle Scholar
  6. Ellinwood NM, Wang P, Skeen T, Sharp NJ, Cesta M, Decker S, Edwards NJ, Bublot I, Thompson JN, Bush W, Hardam E, Haskins ME, Giger U (2003) A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome IIIB): N-acetyl-a-d-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26:489–504PubMedGoogle Scholar
  7. Fischer A, Carmichael KP, Munnell JF, Jhabvala P, Thompson JN, Matalon R, Jezyl PF, Wang P, Giger U (1998) Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A). Pediatr Res 44:74–82PubMedGoogle Scholar
  8. Garbuzova-Davis S, Willing AE, Desjarlais T, Davis-Sanberg C, Sanberg PR (2005) Transplantation of human umbilical cord blood cells benefits an animal model of Sanfilippo syndrome type B. Stem Cells Dev 14:384–394PubMedGoogle Scholar
  9. Giger U, Shivaprasad H, Wang P, Jezyk P, Pazzerson D, Bradley G (1997) Mucopolysaccharidosis type III B (Sanfilippo B syndrome) in emus. Vet Pathol 34:473Google Scholar
  10. Gliddon BL, Hopwood JJ (2004) Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice. Pediatr Res 56:65–72PubMedGoogle Scholar
  11. Gografe SI, Garbuzova-Davis S, Willing AE, Haas K, Chamizo W, Sanberg PR (2003) Mouse model of Sanfilippo syndrome type B: relation of phenotypic features to background strain. Comp Med 53:622–632PubMedGoogle Scholar
  12. Hemsley KM, Hopwood JJ (2005) Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA). Behav Brain Res 158:191–199PubMedGoogle Scholar
  13. Li HH, Yu WH, Rozengurt N, Zhao HZ, Lyons KM, Anagnostaras S, Fanselow MS, Suzuki K, Vanier MT, Neufeld EF (1999) Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding α-N acetylglucosaminidase. Proc Natl Acad Sci U S A 96:14505–14510PubMedCentralPubMedGoogle Scholar
  14. Li HH, Zhao HZ, Neufeld EF, Cai Y, Gomez-Pinilla F (2002) Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B. J Neurosci Res 69:30–38PubMedGoogle Scholar
  15. Thompson JN, Jones MZ, Dawson G, Huffman PS (1992) N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID). J Inherit Metab Dis 15:760–766PubMedGoogle Scholar
  16. Yu WH, Zhao KW, Ryaznatsev S, Rosengurt N, Neufeld EF (2000) Short-term enzyme replacement in the mouse model of Sanfilippo syndrome B. Mol Genet Metab 71:573–580PubMedGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  1. 1.Kallman Preclinical ConsultingGreenfieldUSA

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