Size and shape of the corpus callosum in adult niemann-pick type C reflects state and trait illness variables

American Journal of Neuroradiology

Volumn 32, Issue 7, 2011, Pages 1340-1346

  Walterfang, Mark ^a,b   Fahey, M ^c,d   Abel, L ^a   Fietz, M ^c,d   Wood, A ^e   Bowman, E ^a   Reutens, D ^f   Velakoulis, D ^a,b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c MONASH CHILDREN S HOSPITAL   (Australia)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^f UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRAIN REGION; BRAIN SIZE; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM; DISEASE SEVERITY; FEMALE; HUMAN; MALE; NIEMANN PICK DISEASE; OCULOMOTOR SYSTEM; OUTCOME ASSESSMENT;

ADOLESCENT; ADULT; ANATOMIC LANDMARKS; CORPUS CALLOSUM; DIFFUSION TENSOR IMAGING; DISEASE PROGRESSION; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; NEURONS; NIEMANN-PICK DISEASE, TYPE C; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 80051957385     PISSN: 01956108     EISSN: 1936959X     Source Type: Journal    
DOI: 10.3174/ajnr.A2490     Document Type: Article

References (49)

1. Vanier M., Millat G. Niemann-Pick disease type C. Clin Genet 2003;64:269-281 (Pubitemid 37236127)
2. Patterson M., Vanier M., Suzuki K., et al. Niemann-Pick disease type C: A lipid trafficking disorder. In: Scriver C, Beaudet A, Sly W, et al. eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001:3611-3634
3. Walterfang M., Mocellin R., Velakoulis D. The neuropsychiatry of neuroendocrine and neurometabolic disorders. In: Sadock B, Sadock V, Ruiz P, eds. Kaplan and Sadock's Comprehensive Textbook of Psychiatry, 11th ed. Philadelphia: Lippincott Williams & Wilkins; 2009:592-618
4. Paul C., Boegle A., Maue R. Before the loss: neuronal dysfunction in Niemann- Pick type C disease. Biochim Biophys Acta 2004;1685:63-76
5. Vanier M. Lipid changes in Niemann-Pick disease type C brain: Personal experience and review of the literature. Neurochem Res 1999;24:481-489 (Pubitemid 29187399)
6. Walkley S., Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta 2004;1685:48-62
7. Grau A.J., Brandt T., Weisbrod M., et al. Adult Niemann-Pick disease type C mimicking features of multiple sclerosis. J Neurol Neurosurg Psychiatry 1997;63:552
8. Josephs K.A., Van Gerpen M.W., Van Gerpen J.A. Adult onset Niemann-Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry 2003;74:528-529 (Pubitemid 36379385)
9. Palmeri S., Battisti C., Federico A., et al. Hypoplasia of the corpus callosum in Niemann-Pick type C disease. Neuroradiology 1994;36:20-22 (Pubitemid 24001249)
10. Trendelenburg G., Vanier M.T., Maza S., et al. Niemann-Pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry 2006;77:997-998 (Pubitemid 44174100)
11. Trouard T., Heidenreich R., Seeger J., et al. Diffusion tensor imaging in Niemann- Pick type C disease. Pediatr Neurol 2005;33:325-330 (Pubitemid 41501551)
12. Yang C.C., Su Y.N., Chiou P.C., et al. Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. J Neurol Neurosurg Psychiatry 2005;76:592-595
13. Walterfang M., Fahey M., Fietz M., et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci 2006;18:158-170
14. Walterfang M., Fietz M., Abel L., et al. Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C. J Inherit Metab Dis 2009 Jul 17 [Epub ahead of print]
15. Sevin M., Lesca G., Baumann M., et al. The adult form of Niemann-Pick disease type C. Brain 2007;130:120-133 (Pubitemid 46026228)
16. Walterfang M., Fahey M., Desmond P., et al. White and gray matter alterations in adults with Niemann-Pick disease type C: A cross-sectional study. Neurology 2010;75:49-56
17. Pandya D., Seltzer B. The topography of commisural fibers. In: Lepore F, Pitto M, Jasper H, eds. Two Hemispheres, One Brain Functions of the Human Corpus Callosum. New York: Alan R Liss; 1986:47-73
18. Hampel H., Teipel S.J., Alexander G.E., et al. Corpus callosum atrophy is a possible indicator of region- and cell type-specific neuronal degeneration in Alzheimer disease: A magnetic resonance imaging analysis. Arch Neurol 1998;55:193-198
19. Teipel S.J., Hampel H., Alexander G.E., et al. Dissociation between corpus callosum atrophy and white matter pathology in Alzheimer's disease. Neurology 1998;51:1381-1385 (Pubitemid 28520562)
20. Ong W., Kumar U., Switzer R., et al. Neurodegeneration in Niemann-Pick typeC disease mice. Exp Brain Res 2001;141:218-231 (Pubitemid 33020850)
21. Higashi Y., Murayama S., Pentchev P., et al. Pathology of Niemann-Pick type C: Studies of murine mutant. In: Ikuta F, ed. Neuropathology in Brain Research. Amsterdam, Netherlands: Elsevier; 1991:85-102
22. Ahmad I., Lope-Piedrafita S., Bi X., et al. Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann-Pick type C mine. J Neurosci 2005;82:811-821 (Pubitemid 41746494)
23. Lope-Piedrafita S., Totenhagen J., Hicks C., et al. MRI detects therapeutic effects in weanling Niemann-Pick type C mice. J Neurosci Res 2008;86:2802-2807
24. German D., Liang C., Song T., et al. Neurodegeneration in the Niemann-Pick C mouse: Glial involvement. Neuroscience 2002;109:437-450 (Pubitemid 34121996)
25. German D., Quintero E., Liang C., et al. Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease. J Comp Neurol 2001;433:415-425 (Pubitemid 32280661)
26. Iturriaga C., Pineda M., Fernandez-Valero E., et al. Niemann-Pick C disease in Spain: Clinical spectrum and development of a disability scale. J Neurol Sci 2006;249:1-6 (Pubitemid 44767636)
27. Walterfang M., Malhi G.S., Wood A.G., et al. Corpus callosum size and shape in established bipolar affective disorder. Aust N Z J Psychiatry 2009;43:838-845
28. Walterfang M., Wood A., Reutens D., et al. Corpus callosum size and shape in first-episode affective and schizophrenia-spectrum psychosis. Psych Res Neuroimaging 2009;173:77-82
29. Walterfang M,WoodA, Reutens D, et al. Morphology of the corpus callosum at different Stages of schizophrenia: A cross-sectional study in first-episode and chronic illness. Br J Psychiatry 2008;192:429-434
30. Walterfang M., Yung A., Wood A., et al. Corpus callosum shape alterations in individuals prior to the onset of psychosis. Schizophr Res 2008;103:1-10
31. Walterfang M., Chanen A.M., Barton S., et al. Corpus callosum morphology and relationship to orbitofrontal and lateral ventricular volume in teenagers with first-presentation borderline personality disorder. Psychiatry Res 2010;183: 30-37
32. Abel L., Walterfang M., Fietz M., et al. Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem and biochemical deficits. Neurology 2009; 72:1083-1086
33. Patterson M.C., Vecchio D., Prady H., et al. Miglustat for treatment of Niemann- Pick C disease: A randomised controlled study. Lancet Neurol 2007;6:765-772 (Pubitemid 47238662)
34. Holmes A., Blair R., Watson J., et al. Nonparametric analysis of statistic images from functional mapping experiments. J Cereb Blood Flow Metab 1996;16:7-22 (Pubitemid 26007947)
35. Holm S. A simple sequentially rejective multiple test procedure. Scand J Statist 1979;6:65-70
36. Smith S.M., Zhang Y., Jenkinson M., et al. Accurate, robust, and automated longitudinal and cross-sectional brain change analysis. Neuroimage 2002;17:479-489
37. Galanaud D, tourbah A, Lehericy S, et al. 24 month treatment with miglustat of three patients with Niemann-Pick type C: Follow up using brain spectroscopy. Mol Genet Metab 2009;96:55-58
38. Tedeschi G., Bonavita S., Barton N., et al. Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease. J Neurol Neurosurg Psychiatry 1998;65:72-79 (Pubitemid 28302361)
39. Scheel M., Abegg M., Lanyon L.J., et al. Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient. Mol Genet Metab 2010;99:291-295
40. Sydykova D., Stahl R., Dietrich O., et al. Fiber connections between the cerebral cortex and the corpus callosum in Alzheimer's disease: A diffusion tensor imaging and voxel-based morphometry study. Cereb Cortex 2007;17:2276-2282 (Pubitemid 47517463)
41. Tomimoto H., Lin J.X., Matsuo A., et al. Different mechanisms of corpus callosum atrophy in Alzheimer's disease and vascular dementia. J Neurol 2004;251:398-406 (Pubitemid 38501296)
42. March P., Thrall M., Brown D., et al. GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. Acta Neuropathol 1997;94:164-172 (Pubitemid 27338505)
43. Sarna J., Larouche M., Marzban H., et al. Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease. J Comp Neurol 2003;456:279-291 (Pubitemid 36110250)
44. Zervas M., Dobrenis K., Walkley S. Neurons in Niemann-Pick type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J Neuropathol Exp Neurol 2001;60:49-64 (Pubitemid 32097005)
45. Goodrum J., Pentchev P. Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice. J Neurosci Res 1997;49:389-392 (Pubitemid 27344199)
46. Takikita S., Fukuda T., Mohri I., et al. Perturbed myelination process of premyelination oligodendrocyte in Niemann-Pick type C mouse. J Neuropathol Exp Neurol 2004;63:660-673 (Pubitemid 38736429)
47. Kloppel S., Draganski B., Golding C.V., et al. White matter connections reflect changes in voluntary-guided saccades in pre-symptomatic Huntington's disease. Brain 2008;131:196-204
48. Pierrot-Deseilligny C., Rivaud S., Penet C., et al. Latencies of visually guided saccades in unilateral hemispheric cerebral lesions. Ann Neurol 1987;21:138-148 (Pubitemid 17016829)
49. Schlag J., Dassonville P., Schlag-Rey M. Interaction of the two frontal eye fields before saccade onset. J Neurophysiol 1998;79:64-72 (Pubitemid 28133799)