White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging

Journal of Inherited Metabolic Disease

Volumn 38, Issue 2, 2015, Pages 295-304

  Timmers, Inge ^a,b   Zhang, Hui ^c   Bastiani, Matteo ^a   Jansma, Bernadette M ^a   Roebroeck, Alard ^a   Rubio Gozalbo, M Estela ^b  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR; CELL DENSITY; CLASSIC GALACTOSEMIA; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DIET; DIFFUSION WEIGHTED IMAGING; ENZYME ACTIVITY; FEMALE; GALACTOSEMIA; HUMAN; LANGUAGE DISABILITY; LEFT HEMISPHERE; MALE; MOTOR DYSFUNCTION; NERVOUS SYSTEM PARAMETERS; NEURITE; NEURITE DENSITY INDEX; NEURITE ORIENTATION DISPERSION AND DENSITY IMAGING; NEUROIMAGING; NEUROPATHOLOGY; ONSET AGE; VISUAL MEMORY; VOICE ONSET TIME; WHITE MATTER; WHOLE BODY SCANNER; WORKING MEMORY; AGE; BRAIN MAPPING; CASE CONTROL STUDY; COGNITION; DIET THERAPY; LANGUAGE; LOW CARBOHYDRATE DIET; MOTOR ACTIVITY; PATHOLOGY; PATHOPHYSIOLOGY; PREDICTIVE VALUE; PROCEDURES; PROGNOSIS; PSYCHOLOGY; YOUNG ADULT;

ADOLESCENT; AGE FACTORS; BRAIN MAPPING; CASE-CONTROL STUDIES; COGNITION; DIET, CARBOHYDRATE-RESTRICTED; DIFFUSION MAGNETIC RESONANCE IMAGING; FEMALE; GALACTOSEMIAS; HUMANS; LANGUAGE; MALE; MOTOR ACTIVITY; NEURITES; PREDICTIVE VALUE OF TESTS; PROGNOSIS; WHITE MATTER; YOUNG ADULT;

EID: 84925511178     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9780-x     Document Type: Article

References (53)

1. Andersson JLR, Skare S, Ashburner J (2003) How to correct susceptibility distortions in spin-echo echo-planar images: application to diffusion tensor imaging. Neuroimage 20(2):870–888
2. Antshel KM, Epstein IO, Waisbren SE (2004) Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology 18(4):658–664
3. Asato MR, Terwilliger R, Woo J, Luna BS (2010) White matter development in adolescence: a DTI study. Cereb Cortex 20:2122–2131
4. Assaf Y, Basser PJ (2005) Composite hindered and restricted model of diffusion (CHARMED) MR imaging of the human brain. Neuroimage 27:48–58
5. Böhles H, Wenzel D, Shin YS (1986) Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins. Eur J Pediatr 145:413–417
6. Button KS, Ioannidis JPA, Mokrysz C et al (2013) Power failure: why small sample size undermines the reliability of neuroscience. Nat Rev Neurosci 14:365–376
7. Cabeza R, Dolcos F, Graham R, Nyberg L (2002) Similarities and differences in the neural correlates of episodic memory retrieval and working memory. Neuroimage 16(2):317–330
8. Catani M, Mesulam M (2008) The arcuate fasciculus and the disconnection theme in language and aphasia: History and current state. Cortex 44(8):953–961
9. Chapman MC, Jelsone-Swain L, Johnson TD, Gruis KL, Welsh RC (2013) Diffusion tensor MRI of the corpus callosum in amyotrophic lateral sclerosis. J Magn Reson Imaging. doi:10.1002/jmri.24218
10. Cohen J (1988) Statistical power analysis for the behavioral sciences. Academic, New York
11. Crome L (1962) A case of galactosaemia with the pathological and neuropathological findings. Arch Dis Child 37:415–421
12. Doyle CM, Channon S, Orlowska D, Lee PJ (2010) The neuropsychological profile of galactosaemia. J Inherit Metab Dis 33:603–609
13. Evanglou N, Esiri MM, Smith S, Palace J, Matthews PM (2000) Quantitative pathological evidence for axonal loss in normal appearing white matter in multiple sclerosis. Ann Neurol 47:391–395
14. Friederici AD (2009) Pathways to language: fiber tracts in the human brain. Trends Cogn Sci 13(4):175–181
15. Fuster JM (2008) The prefrontal cortex, fourthth edn. Academic, London
16. Ge H, Yin X, Xu J et al (2013) Fiber pathways of attention subnetworks revealed with tract-based spatial statistics (TBSS) and probabilistic tractography. PLoS One 8(11):e78831
17. Glasser MF, Rilling JK (2008) DTI tractography of the human brain's language pathways. Cereb Cortex 18:2471–2482
18. Gotts SJ, Joon Jo H, Wallace GL, Saad ZS, Cox R, Martin A (2013) Two distinct forms of functional lateralization in the human brain. PNAS. doi:10.1073/pnas.1302581110
19. Haberland C, Hof EG, Perou H, Brunngraber M (1971) The neuropathology of galactosemia. A histopathological and biochemical study. J Neuropathol Exp Neurol 30(3):431–447
20. Holton JB, Walter JH, Tyfield LA (2001) Galactosemia. In: Scriver CR, Childs B (eds) The metabolic & molecular bases of inherited disease. McGraw-Hill, New York, pp 1553–1587
21. Hughes J, Ryan S, Lambert D et al (2009) Outcomes of siblings with classical galactosemia. J Pediatr 154(5):721–726
22. Jespersen SN, Bjarkam CR, Nyengaard JR et al (2010) Neurite density from magnetic resonance diffusion measurements at ultrahigh field: comparison with light microscopy and electron microscopy. Neuroimage 49:205–216
23. Jespersen SN, Leigland LA, Cornea A, Kroenke CD (2012) Determination of axonal and dendritic orientation distributions within the developing cerebral cortex by diffusion tensor imaging. IEEE Trans Med Imaging 31(1):16–32
24. Keihaninejad S, Zhang H, Ryan NS et al (2013) An unbiased longitudinal analysis framework for tracking white matter changes using diffusion tensor imaging with application to Alzheimer's disease. Neuroimage 72:153–163
25. Kell CA, Morillon B, Kouneiher F, Giraud AL (2011) Lateralization of speech production starts in sensory cortices–a possible sensory origin of cerebral left dominance for speech. Cereb Cortex 21:932–937
26. Klingberg T (2006) Development of a superior frontal–intraparietal network for visuo-spatial working memory. Neuropsychologia 44(11):2171–2177
27. Martin A, Chao LL (2001) Semantic memory and the brain: structure and processes. Curr Opin Neurobiol 11(2):194–201
28. Meyers JE, Meyers KR (1995) Rey complex figure test and recognition trial: professional manual. Psychological Assessment Resources, Inc., Odessa
29. Nelson MD, Wolff JA, Cross CA, Donnell GN, Kaufman FR (1992) Galactosemia: evaluation with MR Imaging. Radiology 184:255–261
30. Otaduy MCG, Leite CC, Lacerda MTC et al (2006) Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment. Am J Neuroradiol 27:204–207
31. Pierpaoli C, Jezzard P, Basser PJ, Barnett A, Chiro GD (1996) Diffusion tensor MR imaging of the human brain. Radiology 201:637–648
32. Potter NL (2011) Voice disorders in children with classic galactosemia. J Inherit Metab Dis 34(2):377–385
33. Potter NL, Lazarus JAC, Johnson JM, Steiner RD, Shriberg LD (2008) Correlates of language impairment in children with galactosaemia. J Inherit Metab Dis 31(4):524–532
34. Potter NL, Nievergelt Y, Shriberg LD (2013) Motor and speech disorders in classic galactosemia. JIMD Reports 11:31–41
35. Roosendaal SD, Geurts JJG, Vrenken H et al (2009) Regional DTI differences in multiple sclerosis patients. Neuroimage 44(4):1397–1403
36. Rubio-Agusti I, Carecchio M, Bhatia KP et al (2013) Movement disorders in adult patients with classical galactosemia. Mov Disord 28(6):804–810
37. Saur D, Kreher BW, Schnell S et al (2008) Ventral and dorsal pathways for language. PNAS 105(46):18035–18040
38. Shriberg LD, Potter NL, Strand EA (2011) Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. J Speech Lang Hear Res 54(2):487–519
39. Smith SM, Nichols TE (2009) Threshold-free cluster enhancement: addressing problems of smoothing, threshold dependence and localisation in cluster inference. Neuroimage 44(1):83–98
40. Smith SM, Jenkinson M, Woolrich MW et al (2004) Advances in functional and structural MR image analysis and implementation as FSL. Neuroimage 23(S1):208–219
41. Smith SM, Jenkinson M, Johansen-Berg H et al (2006) Tract-based spatial statistics: voxelwise analysis of multi-subject diffusion data. Neuroimage 31:1487–1505
42. Timmers I, Jansma BM, Rubio Gozalbo ME (2012) From mind to mouth: event related potentials of sentence production in classic galactosemia. PLoS One 7(12):e52826
43. van Haasen PP, de Bruyn EEJ, Pijl YL et al (1986) WISC-R, Weschler Intelligence Scale for Children — revised, Nederlandstalige uitgave. Deel I. Testinstructie; Deel II. Scoring en Normen; Deel III. Verantwoording. Swets & Zeitlinger, Lisse
44. Vos PG (1988) Bourdon-Vos-Test [Bourdon-Vos Test]. Swets & Zeitlinger, Lisse
45. Waggoner DD, Buist NRM, Donnell GN (1990) Long-term prognosis in galactosemia: results of a Survey of 350 Cases. J Inherit Metab Dis 13(6):802–818
46. Waisbren SE, Potter NL, Gordon CM et al (2012) The adult galactosemic phenotype. J Inherit Metab Dis 35(2):279–286
47. Wakana S, Jiang H, Nagae-Poetscher LM, van Zijl PCM, Mori S (2003) Fiber tract–based atlas of human white matter anatomy. Radiology 230(1):77–87
48. Wang ZJ, Berry GT, Dreha SF, Zhao H, Segal S, Zimmerman RA (2001) Proton magnetic resonance spectroscopy of brain metabolites in galactosemia. Ann Neurol 50:266–269
49. Wang Y, Gupta A, Liu Z et al (2011) DTI registration in atlas based fiber analysis of infantile Krabbe disease. Neuroimage 55(4):1577–1586
50. Widhalm K, Miranda-da-Cruz BD, de Sonneville LMJ (2002) Information processing characteristics and uridine treatment in children with classical galactosemia. Nutr Res 22(3):257–270
51. Winston GP, Micallef C, Symms MR, Alexander DC, Duncan JS, Zhang H (2013) Advanced diffusion imaging sequences could aid assessing patients with focal cortical dysplasia and epilepsy. Epilepsy Res. doi:10.1016/j.eplepsyres.2013.1011.1004
52. Zhang H, Yushkevich PA, Alexander DC, Gee JC (2006) Deformable registration of diffusion tensor MR images with explicit orientation optimization. Med Image Anal 10:764–785
53. Zhang H, Schneider T, Wheeler-Kingshott CA, Alexander DC (2012) NODDI: practical in vivo neurite orientation dispersion and density imaging of the human brain. Neuroimage 61:1000–1016