The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuria

Behavior Genetics

Volumn 33, Issue 3, 2003, Pages 301-310

  Cabib, Simona ^a,b,c   Pascucci, Tiziana ^a,b   Ventura, Rossella ^a,b   Romano, Valentino ^d   Puglisi Allegra, Stefano ^a,b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^c CNR   (Italy)

^d UNIVERSITY OF PALERMO   (Italy)

Author keywords

Anxiety; Hyperphenylalaninemia; Neurodevelopment; Object recognition; Spatial novelty

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ASSOCIATION; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE SEVERITY; EMOTION; GENE MUTATION; GENE TARGETING; HETEROZYGOSITY; INFORMATION PROCESSING; MALE; MENTAL DEFICIENCY; MOUSE; NERVE CELL DIFFERENTIATION; NONHUMAN; PHENOTYPE; PHENYLKETONURIA; RECOGNITION; REINFORCEMENT; TASK PERFORMANCE; TRAINING;

ANIMALS; DISEASE MODELS, ANIMAL; EMOTIONS; EXPLORATORY BEHAVIOR; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MAZE LEARNING; MENTAL RETARDATION; MICE; MICE, INBRED STRAINS; PHENYLALANINE; PHENYLKETONURIAS; SPACE PERCEPTION;

ANIMALIA;

EID: 0038439345     PISSN: 00018244     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1023498508987     Document Type: Article

References (35)

1. Arnold, G. L., Kramer, B. M., Kirby, R. S., Plumeau, P. B., Blakely, E. M., Sanger Cregan, L. S., and Davidson, P. W. (1998). Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatr. 87(5):565-570.
2. Belzung, C., and Griebel, G. (2001). Measuring normal and pathological anxiety-like behaviour in mice: A review. Behav. Brain. Res. 125(1-2):141-149.
3. Broening, H. W., Morford, L. L., Inman-Wood, S. L., Fukumura, M., and Vorhees, C. V. (2001). 3,4-methylenedioxymethamphetamine (ecstasy)-induced learning and memory impairments depend on the age of exposure during early development. J. Neurosci. 21:3228-3235.
4. Carvell, G. E., and Simons, D. J. (1995). Task- and subject-related differences in sensorimotor behavior during active touch. Somatosens. Mot. Res. 12(1):1-9.
5. Clark, R. E., Zola, M. S., and Squire, L. R. (2000). Impaired recognition memory in rats after damage to the hippocampus. J. Neurosci. 20:8853-8860.
6. Coleman, D. L. (1960). Phenylalanine hydroxylase activity in dilute and nondilute strains of mice. Arch. Biochem. Biophys. 91:300-306.
7. Diamond, A., Prevor, M. B., Callender, G., and Druin, D. P. (1997). Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr. Soc. Res. Child. Dev. 62(4):1-208.
8. Dix, S. L., and Aggleton, J. P. (1999). Extending the spontaneous preference test of recognition: Evidence of object-location and object-context recognition. Behav. Brain Res. 99:191-200.
9. Dyer, C. A., Kendler, A., Philibotte, T., Gardiner, P., Cruz, J., and Levy, H. L. (1996). Evidence for central nervous system glial cell plasticity in phenylketonuria. J. Neuropathol. Exp. Neurol. 55(7):795-814.
10. Dobkin, C., Rabe, A., Dumas, R., El Idrissi, A., Haubenstock, H., and Brown, W. T. (2000). Fmr1 knockout mouse has a distinctive strainspecific learning impairment. Neuroscience 100(2):423-9.
11. Fletcher, M., and Wilson, D. A. (2001). Ontogeny of odor discrimination: A method to assess novel odor discrimination in neonatal rats. Physiol. Behav. 74(4-5):589-593.
12. Gerlai, R. (1998). Contextual learning and cue association in fear conditioning in mice: A strain comparison and a lesion study. Behav. Brain. Res. 95(2):191-203.
13. Guttler, F., and Lou, H. (1986). Dietary problems of phenylketonuria: Effect on CNS transmitters and their possible role in behaviour and neuropsychological function. J. Inherit. Metab. Dis. 9:169-177.
14. hph-5: A mouse mutant deficient in phenylalanine hydroxylase. Proc. Natl. Acad. Sci. USA 87:1965-1967.
15. McDonald, J. D., and Charlton, C. K. (1997). Characterization of mutations at the mouse phenylalanine hydroxylase locus. Genomics 39(3):402-405.
16. McKean, C. M. (1972). The effects of high phenilalanine concentrations on serotonin and catecholamine metabolism in the human brain. Brain Res. 47:469-476.
17. Mihalick, S. M., Langlois, J. C., Krienke, J. D., and Dube, W. V. (2000). An olfactory discrimination procedure for mice. J. Exp. Anal. Behav. 73(3):305-318.
18. Mumby, D. G. (2001). Perspectives on object-recognition memory following hippocampal damage: lessons from studies in rats. Behav. Brain Res. 127:159-181.
19. Myslivecek, J. (1997). Inhibitory learning and memory in newborn rats. Prog. Neurobiol. 53(4):399-430.
20. Passino, E., Middei, S., Restivo, L., Bertaina-Anglade, V., and Ammassari-Teule, M. (2002). Genetic approach to variability of memory systems: Analysis of place vs. response learning and fos-related expression in hippocampal and striatal areas of C57BL/6 and DBA/2 mice. Hippocampus 12(1):63-75.
21. Pietz, J. (1998). Neurological aspects of adult phenylketonuria. Curr. Opin. Neurol. 11(6):679-688.
22. Poucet, B. (1989). Object exploration, habituation, and response to spatial change in rats following septal or medial frontal cortical damage. Behav. Neurosci. 103:1009-1016.
23. Puglisi-Allegra, S., Cabib, S., Pascucci, T., Ventura, R., Calì, F., and Romano, V. (2000). Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria. Neuroreport 11(26):1361-1364.
24. Ricceri, L., Colozza, C., and Calamandrei, G. (2000). Ontogeny of spatial discrimination in mice: A longitudinal analysis in the modified openfield with objects. Dev. Psychobiol. 37(2):109-118.
25. Rossi-Arnaud, C., Fagioli, S., and Ammassari-Teule, M. (1991). Spatial learning in two inbred strains of mice: Genotype-dependent effect of amygdaloid and hippocampal lesions. Behav. Brain. Res. 45(1):9-16.
26. Roullet, P., Mele, A., and Ammassari-Teule, M. (1997). Ibotenic acid lesions of the nucleus accumbens improve detection of spatial novelty in poor spatial learner mice. Behav. Neurosci. 111:976-984.
27. Scriver, C. R., and Waters, P. J. (1999). Monogenic traits are not simple: Lessons from phenylketonuria. Trends Genet. 15(7):267-272.
28. Shedlovsky, A., McDonald, J. D., Symula, D., and Dove, W. F. (1993). Mouse models of human phenylketonuria. Genetics 134:1205-1210.
29. Shimada, N., Graf, R., Rosner, G., and Heiss, W. D. (1993) Ischemia-induced accumulation of extracellular amino acids in cerebral cortex, white matter, and cerebrospinal fluid. J. Neurochem. 60:66-71.
30. Smith, C. B., and Kang, J. (2000). Cerebral protein synthesis in a genetic mouse model of phenylketonuria. Proc. Natl. Acad. Sci. USA. 97(20):11014-11019.
31. Sullivan, R. M., and Wilson, D. A. (1993). Role of the amygdala complex in early olfactory associative learning. Behav. Neurosci. 107(2):254-63.
32. Wallace, D. G., Gorny, B., and Whishaw, I. Q. (2002). Rats can track odors, other rats, and themselves: Implications for the study of spatial behavior. Behav Brain Res. 131(1-2):185-192.
33. Whitaker-Azmitia, P. M. (2001). Serotonin and brain development: Role in human developmental diseases. Brain Res. Bull. 564:79-85.
34. White, D. A., Nortz, M. J., Mandernach, T., Huntington, K., and Steiner, R. D. (2002). Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria. J. Int. Neuropsychol. Soc. 8(1):1-11.
35. Zagreda, L., Goodman, J., Druin, D. P., McDonald, D., and Diamond, A. (1999). Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation. J. Neurosci. 19(14):6175-6182.