White and gray matter alterations in adults with Niemann-Pick disease type C: A cross-sectional study

Neurology

Volumn 75, Issue 1, 2010, Pages 49-56

  Walterfang, M ^a   Fahey, M ^b   Desmond, P ^a,c   Wood, A ^d   Seal, M L ^a   Steward, C ^a,c   Adamson, C ^d   Kokkinos, C ^c   Fietz, M ^e,f   Velakoulis, D ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c ROYAL MELBOURNE HOSPITAL   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^f UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANISOTROPY; ARTICLE; BRAIN CORTEX; BRAIN REGION; BRAIN SIZE; CEREBELLUM; CLINICAL ARTICLE; COGNITIVE DEFECT; CROSS-SECTIONAL STUDY; FEMALE; GAZE PARALYSIS; GRAY MATTER; HIPPOCAMPUS; HUMAN; INSULA; MALE; MEASUREMENT; MENTAL DISEASE; MORPHOMETRICS; MYELINATION; NEUROIMAGING; NEUROPATHOLOGY; NIEMANN PICK DISEASE; PRIORITY JOURNAL; THALAMUS; VOLUMETRY; WHITE MATTER;

EID: 77954650422     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181e6210e     Document Type: Article

References (39)

1. Vanier M, Millat G. Niemann-Pick disease type C. Clin Genet 2003;64:269-281.
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, Fietz M, Fahey M, et al. The neuropsychi-atry of Niemann-Pick type C disease in adulthood. J Neu-ropsychiatry Clin Neurosci 2006;18:158-170.
4. Paul C, Boegle A, Maue R. Before the loss: neuronal dysfunction in Niemann-Pick type C disease. Biochim Bio-phys 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.
6. Walkley S, Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta 2004;1685:48-62.
7. Smith S, Jenkinson M, Woolrich M, et al. Advances in functional and structural MR image analysis and implementation as FSL. Neuroimage 2004;23:S208-S219.
8. Smith S, Jenkinson M, Johansen-Berg H, et al. Tract-based spatial statistics: voxel-wise analysis of multi-subject diffusion data. Neuroimage 2006;31:1487-1505.
9. Jenkinson M, Smith S. A global optimisation method for robust affine registration of brain images. Med Image Anal 2001;5:143-156.
10. Sevin M, Lesca G, Baumann M, et al. The adult form of Niemann-Pick disease type C. Brain 2007;130:120-133.
11. Josephs K, Van Gerpen M, Van Gerpen J. Adult-onset Niemann-Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry 2003;74:528-529.
12. March P, Thrall M, Brown D, et al. GABAergic neuroax-onal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. Acta Neuropathol 1997;94:164-172.
13. Siegel D, Walkley S. Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside. J Neurochem 1994;62:1852-1862.
14. Walkley S, Baker H, Rattazzi M, et al. Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement. J Neurol Sci 1991;104:1-8.
15. Taniguchi M, Shinoda Y, Ninomiya H, et al. Site and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain. Brain Dev 2001;23:414-421.
16. German D, Quintero E, Liang C, et al. Selective neurode-generation, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease. J Comp Neurol 2001; 433:415-425.
17. 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.
18. Higashi Y, Murayama S, Pentchev P, Suzuki K. Cerebellar degeneration in the Niemann-Pick type C mouse. Acta Neuropathol 1993;85:175-184.
19. Yamada A, Ukita M, Shinoda Y, et al. Progressive neuronal loss in the ventral posterior lateral and medial nuclei of thalamus in Niemann Pick disease type C mouse brain. Brain Dev 2001;5:288-297.
20. Love S, Bridges L, Case C. Neurofibrillary tangles in Niemann-Pick disease type C. Brain 1995;118:119-129.
21. Suzuki K, Parker C, Pentchev P, et al. Neurofibrillary tangles in Niemann-Pick disease type C. Acta Neuropathol 1995;89:227-238.
22. Suzuki K, Parker C, Pentchev P. Niemann-Pick disease type C: neuropathology revisited. Dev Brain Dysfunct 1997;10:306-320. (Pubitemid 29222692)
23. Bu B, Klunemann H, Suzuki K, et al. Niemann-Pick type C yields possible clues for why cerebellar neurons do not form neurofibrillary tangles. Neurobiol Dis 2002;11:285-297.
24. 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.
25. 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.
26. Trouard T, Heidenreich R, Seeger J, Erickson R. Diffusion tensor imaging in Niemann-Pick type C disease. Pediatr Neurol 2005;33:325-330.
27. 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.
28. German D, Liang C, Song T, et al. Neurodegeneration in the Niemann-Pick C mouse: glial involvement. Neurosci 2002;109:437-450.
29. Karten B, Vance D, Campenot R, Vance J. Trafficking of cholesterol from cell bodies to distal axons in Niemann-Pick C1-deficient neurons. J Biol Chem 2003;278:4168-4175.
30. 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.
31. Weintraub H, Abramovici A, Sandbank U, et al. Dysmy-elination in NCTR-Balb/C mouse mutant with a lysoso-mal storage disorder: morphological survey. Acta Neuropathol 1987;74:374-381.
32. Takikita S, Fukuda T, Mohri I, et al. Perturbed myelina-tion process of premyelinating oligodendrocyte in Niemann-Pick type C mouse. J Neuropathol Exp Neurol 2004;63:660-673.
33. Le Bihan D, Mangin J-F, Poupon C, et al. Diffusion tensor imaging: concepts and applications. J Magn Reson Imaging 2001;13:534-546.
34. Song S, Yoshino J, Le T, et al. Demyelination increases radial diffusivity in corpus callosum of mouse brain. Neu-roimage 2005;26:132-140.
35. Song S, Sun S, Ju W, et al. Diffusion tensor imaging detects and differentiates axons and myelin degeneration in mouse optic nerve after retinal ischemia. Neuroimage 2003;20:1714-1722.
36. Ong W, Kumar U, Switzer R, et al. Neurodegeneration in Niemann-Pick type C disease mice. Exp Brain Res 2001; 141:218-231.
37. Klarner B, Klunemann H, Lurding R, et al. Neuropsy-chological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. J Inherit Metab Dis 2007;30: 60-67.
38. Hinton V, Vecchio D, Prady H, et al. The Cognitive Phe-notype of Type C Disease: Neuropsychological Characteristics of Patients at Baseline in a Clinical Trial with Oral Miglustat. Salt Lake City: American Society of Human Genetics; 2005.
39. Yamada K, Shiga K, Kizu O, et al. Oculomotor nerve palsy evaluated by diffusion-tensor tractography. Neuroradiology 2006;48:434-437.