White matter integrity and executive abilities in individuals with phenylketonuria

Molecular Genetics and Metabolism

Volumn 109, Issue 2, 2013, Pages 125-131

  Antenor Dorsey, Jo Ann V ^a   Hershey, Tamara ^a,b   Rutlin, Jerrel ^a   Shimony, Joshua S ^b   McKinstry, Robert C ^a,b   Grange, Dorothy K ^a   Christ, Shawn E ^c   White, Desirée A ^d  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MISSOURI   (United States)

^d WASHINGTON UNIVERSITY   (United States)

Author keywords

Brain; Cognition; Executive; Phenylketonuria; White matter

Indexed keywords

PHENYLALANINE;

ADOLESCENT; ADULT; AMINO ACID BRAIN LEVEL; ARTICLE; BRAIN REGION; CHILD; CLINICAL ARTICLE; COGNITION; DIFFUSION TENSOR IMAGING; EXECUTIVE FUNCTION; FEMALE; FUNCTIONAL NEUROIMAGING; HUMAN; INTELLIGENCE QUOTIENT; MALE; NEUROPSYCHOLOGICAL TEST; PHENYLKETONURIA; PRIORITY JOURNAL; SCHOOL CHILD; TASK PERFORMANCE; VOXEL BASED MORPHOMETRY; WHITE MATTER; WORKING MEMORY;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CEREBRAL CORTEX; CHILD; COGNITION; DIFFUSION TENSOR IMAGING; FEMALE; HUMANS; INTELLIGENCE; MALE; MEMORY, SHORT-TERM; NEUROIMAGING; PHENYLALANINE; PHENYLKETONURIAS; YOUNG ADULT;

EID: 84878502615     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.03.020     Document Type: Article

References (42)

1. de Groot M.J., Hoeksma M., Blau N., Reijngoud D.J., van Spronsen F.J. Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol. Genet. Metab. 2010, 99(Suppl. 1):S86-S89.
2. Paine R.S., Hsia D.Y. The dietary phenylalanine requirements and tolerances of phenylketonuric patients. AMA. J. Dis. Child. 1957, 94:224-230.
3. Moyle J.J., Fox A.M., Bynevelt M., Arthur M., Burnett J.R. A neuropsychological profile of off-diet adults with phenylketonuria. J. Clin. Exp. Neuropsychol. 2007, 29:436-441.
4. Brumm V.L., Grant M.L. The role of intelligence in phenylketonuria: a review of research and management. Mol. Genet. Metab. 2010, 99(Suppl. 1):S18-S21.
5. Christ S.E., Huijbregts S.C., De Sonneville L.M., White D.A. Executive function in early-treated phenylketonuria: profile and underlying mechanisms. Mol. Genet. Metab. 2010, 99(Suppl. 1):S22-S32.
6. DeRoche K., Welsh M. Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function. Dev. Neuropsychol. 2008, 33:474-504.
7. Welsh M.C., Pennington B.F., Ozonoff S., Rouse B., McCabe E.R. Neuropsychology of early-treated phenylketonuria: specific executive function deficits. Child Dev. 1990, 61:1697-1713.
8. Anderson P.J., Wood S.J., Francis D.E., Coleman L., Anderson V., Boneh A. Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?. Dev. Neuropsychol. 2007, 32:645-668.
9. Cleary M.A., Walter J.H., Wraith J.E., Jenkins J.P., Alani S.M., Tyler K., Whittle D. Magnetic resonance imaging of the brain in phenylketonuria. Lancet 1994, 344:87-90.
10. Dezortova M., Hajek M., Tintera J., Hejcmanova L., Sykova E. MR in phenylketonuria-related brain lesions. Acta Radiol. 2001, 42:459-466.
11. Ding X.Q., Fiehler J., Kohlschutter B., Wittkugel O., Grzyska U., Zeumer H., Ullrich K. MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients. J. Magn. Reson. Imaging 2008, 27:998-1004.
12. Kono K., Okano Y., Nakayama K., Hase Y., Minamikawa S., Ozawa N., Yokote H., Inoue Y. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 2005, 236:630-636.
13. Leuzzi V., Tosetti M., Montanaro D., Carducci C., Artiola C., Carducci C., Antonozzi I., Burroni M., Carnevale F., Chiarotti F., Popolizio T., Giannatempo G.M., D'Alesio V., Scarabino T. The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0tesla MRI and magnetic resonance spectroscopy (1H MRS) study. J. Inherit. Metab. Dis. 2007, 30:209-216.
14. Manara R., Burlina A.P., Citton V., Ermani M., Vespignani F., Carollo C., Burlina A.B. Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria. Neuroradiology 2009, 51:803-812.
15. Scarabino T., Popolizio T., Tosetti M., Montanaro D., Giannatempo G.M., Terlizzi R., Pollice S., Maiorana A., Maggialetti N., Carriero A., Leuzzi V., Salvolini U. Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion. Radiol. Med. 2009, 114:461-474.
16. Thompson A.J., Tillotson S., Smith I., Kendall B., Moore S.G., Brenton D.P. Brain MRI changes in phenylketonuria. Associations with dietary status. Brain 1993, 116:811-821.
17. Vermathen P., Robert-Tissot L., Pietz J., Lutz T., Boesch C., Kreis R. Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn. Reson. Med. 2007, 58:1145-1156.
18. Mac Donald C.L., Johnson A.M., Cooper D., Nelson E.C., Werner N.J., Shimony J.S., Snyder A.Z., Raichle M.E., Witherow J.R., Fang R., Flaherty S.F., Brody D.L. Detection of blast-related traumatic brain injury in U.S. military personnel. N. Engl. J. Med. 2011, 364:2091-2100.
19. Shimony J.S., Sheline Y.I., D'Angelo G., Epstein A.A., Benzinger T.L., Mintun M.A., McKinstry R.C., Snyder A.Z. Diffuse microstructural abnormalities of normal-appearing white matter in late life depression: a diffusion tensor imaging study. Biol. Psychiatry 2009, 66:245-252.
20. White D.A., Connor L.T., Nardos B., Shimony J.S., Archer R., Snyder A.Z., Moinuddin A., Grange D.K., Steiner R.D., McKinstry R.C. Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol. Genet. Metab. 2010, 99(Suppl. 1):S41-S46.
21. Peng H., Peck D., White D.A., Christ S.E. Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria. J. Inherit. Metab. Dis. 2013, (in press).
22. Smith S.M., Jenkinson M., Woolrich M.W., Beckmann C.F., Behrens T.E., Johansen-Berg H., Bannister P.R., De Luca M., Drobnjak I., Flitney D.E., Niazy R.K., Saunders J., Vickers J., Zhang Y., De Stefano N., Brady J.M., Matthews P.M. Advances in functional and structural MR image analysis and implementation as FSL. NeuroImage 2004, 23(Suppl. 1):S208-S219.
23. Jones D.K., Symms M.R., Cercignani M., Howard R.J. The effect of filter size on VBM analyses of DT-MRI data. NeuroImage 2005, 26:546-554.
24. Smith S.M., Jenkinson M., Johansen-Berg H., Rueckert D., Nichols T.E., Mackay C.E., Watkins K.E., Ciccarelli O., Cader M.Z., Matthews P.M., Behrens T.E. Tract-based spatial statistics: voxelwise analysis of multi-subject diffusion data. NeuroImage 2006, 31:1487-1505.
25. Oishi K., Zilles K., Amunts K., Faria A., Jiang H., Li X., Akhter K., Hua K., Woods R., Toga A.W., Pike G.B., Rosa-Neto P., Evans A., Zhang J., Huang H., Miller M.I., van Zijl P.C., Mazziotta J., Mori S. Human brain white matter atlas: identification and assignment of common anatomical structures in superficial white matter. NeuroImage 2008, 43:447-457.
26. Nichols T.E., Holmes A.P. Nonparametric permutation tests for functional neuroimaging: a primer with examples. Hum. Brain Mapp. 2002, 15:1-25.
27. Walter J.H., White F.J. Blood phenylalanine control in adolescents with phenylketonuria. Int. J. Adolesc. Med. Health 2004, 16:41-45.
28. Anderson P.J., Wood S.J., Francis D.E., Coleman L., Warwick L., Casanelia S., Anderson V.A., Boneh A. Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities. Dev. Med. Child Neurol. 2004, 46:230-238.
29. Pitkonen M., Abo-Ramadan U., Marinkovic I., Pedrono E., Hasan K.M., Strbian D., Durukan A., Tatlisumak T. Long-term evolution of diffusion tensor indices after temporary experimental ischemic stroke in rats. Brain Res. 2012, 1445:103-110.
30. Kashem M.A., Sarker R., Des E.H., Machaalani R., King N., McGregor I.S., Matsumoto I. Comparative proteomics in the corpus callosal sub-regions of postmortem human brain. Neurochem. Int. 2009, 55:483-490.
31. Aboitiz F., Scheibel A.B., Fisher R.S., Zaidel E. Individual differences in brain asymmetries and fiber composition in the human corpus callosum. Brain Res. 1992, 598:154-161.
32. Lomber S.G., Payne B.R., Rosenquist A.C. The spatial relationship between the cerebral cortex and fiber trajectory through the corpus callosum of the cat. Behav. Brain Res. 1994, 64:25-35.
33. Dudink J., Kerr J.L., Paterson K., Counsell S.J. Connecting the developing preterm brain. Early Hum. Dev. 2008, 84:777-782.
34. Banerjee P., Grange D.K., Steiner R.D., White D.A. Executive strategic processing during verbal fluency performance in children with phenylketonuria. Child Neuropsychol. 2011, 17:105-117.
35. Janos A.L., Grange D.K., Steiner R.D., White D.A. Processing speed and executive abilities in children with phenylketonuria. Neuropsychology 2012, 26:735-743.
36. White D.A., Nortz M.J., Mandernach T., Huntington K., Steiner R.D. Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria. J. Int. Neuropsychol. Soc. 2002, 8:1-11.
37. White D.A., Nortz M.J., Mandernach T., Huntington K., Steiner R.D. Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria. Neuropsychology 2001, 15:221-229.
38. Kennedy K.M., Raz N. Aging white matter and cognition: differential effects of regional variations in diffusion properties on memory, executive functions, and speed. Neuropsychologia 2009, 47:916-927.
39. Madden D.J., Spaniol J., Costello M.C., Bucur B., White L.E., Cabeza R., Davis S.W., Dennis N.A., Provenzale J.M., Huettel S.A. Cerebral white matter integrity mediates adult age differences in cognitive performance. J. Cogn. Neurosci. 2009, 21:289-302.
40. Banich M.T., Passarotti A.M., White D.A., Nortz M.J., Steiner R.D. Interhemispheric interaction during childhood: II. Children with early-treated phenylketonuria. Dev. Neuropsychol. 2000, 18:53-71.
41. Gourovitch M.L., Craft S., Dowton S.B., Ambrose P., Sparta S. Interhemispheric transfer in children with early-treated phenylketonuria. J. Clin. Exp. Neuropsychol. 1994, 16:393-404.
42. Cleary M.A., Walter J.H., Wraith J.E., White F., Tyler K., Jenkins J.P. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J. Pediatr. 1995, 127:251-255.