Axonopathy is a compounding factor in the pathogenesis of Krabbe disease

Acta Neuropathologica

Volumn 122, Issue 1, 2011, Pages 35-48

  Castelvetri, Ludovico Cantuti ^a   Givogri, Maria Irene ^a   Zhu, Hongling ^a   Smith, Benjamin ^a   Lopez Rosas, Aurora ^a   Qiu, Xi ^b   Van Breemen, Richard ^b   Bongarzone, Ernesto Roque ^a  

^a UNIVERSITY OF ILLINOIS   (United States)

^b UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

Axonal degeneration; Axonal transport; Bone marrow; Dying back pathology; Lentiviral vectors; Leukodystrophies; Myelin; Twitcher

Indexed keywords

PSYCHOSINE;

ANIMAL CELL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; AXONAL INJURY; BRAIN REGION; CELL DEATH; CELL FUNCTION; CELL SURVIVAL; DEMYELINATION; DISEASE COURSE; GLOBOID CELL LEUKODYSTROPHY; MOUSE; NERVE FIBER DEGENERATION; NERVE INJURY; NEUROPATHY; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL;

ANIMALS; APOPTOSIS; AXONS; CELLS, CULTURED; DEMYELINATING DISEASES; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; LEUKODYSTROPHY, GLOBOID CELL; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MOTOR NEURONS; NERVE FIBERS; PSYCHOSINE; SCIATIC NERVE; SPINAL CORD;

EID: 79959606473     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-011-0814-2     Document Type: Article

References (58)

1. J Aicardi 1993 The inherited leukodystrophies: a clinical overview J Inherit Metab Dis 16 733 743 7692130 10.1007/BF00711905 1:STN:280: DyaK2c%2FhslGqtg%3D%3D (Pubitemid 23237054)
2. RH Baker JC Trautmann BR Younge KD Nelson D Zimmerman 1990 Late juvenile-onset Krabbe's disease Ophthalmology 97 1176 1180 2234850 1:STN:280:DyaK3M%2FksVajuw%3D%3D (Pubitemid 20291771)
3. Banker G, Goslin K (1998) Culturing nerve cells. The MIT Press, Cambridge
4. SC Benn CJ Woolf 2004 Adult neuron survival strategies-slamming on the brakes Nat Rev Neurosci 5 686 700 15322527 10.1038/nrn1477 1:CAS:528: DC%2BD2cXmvVaru7c%3D (Pubitemid 39150140)
5. O Boespflug-Tanguy P Labauge A Fogli C Vaurs-Barriere 2008 Genes involved in leukodystrophies: a glance at glial functions Curr Neurol Neurosci Rep 8 217 229 18541117 10.1007/s11910-008-0034-x 1:CAS:528:DC%2BD1cXhtVeisLbI
6. ER Bongarzone LM Foster S Byravan, et al. 1996 Conditionally immortalized neural cell lines: potential models for the study of neural cell function Methods 10 489 500 8954859 10.1006/meth.1996.0126 1:CAS:528:DyaK28XmslKlsbY%3D (Pubitemid 26391945)
7. CL Cheng JT Povlishock 1988 The effect of traumatic brain injury on the visual system: a morphologic characterization of reactive axonal change J Neurotrauma 5 47 70 3193463 10.1089/neu.1988.5.47 1:STN:280: DyaL1M%2FlsFOquw%3D%3D
8. WW Cleland EP Kennedy 1960 The enzymatic synthesis of psychosine J Biol Chem 235 45 51 13810623 1:CAS:528:DyaF3cXksFSlsw%3D%3D
9. M Coleman 2005 Axon degeneration mechanisms: commonality amid diversity Nat Rev Neurosci 6 889 898 16224497 10.1038/nrn1788 1:CAS:528:DC%2BD2MXhtFKls7bN (Pubitemid 41568730)
10. MP Coleman VH Perry 2002 Axon pathology in neurological disease: a neglected therapeutic target Trends Neurosci 25 532 537 12220882 10.1016/S0166-2236(02)02255-5 1:CAS:528:DC%2BD38XmvVWlsrw%3D (Pubitemid 35246324)
11. DJ Costello AF Eichler FS Eichler 2009 Leukodystrophies: classification, diagnosis, and treatment Neurologist 15 319 328 19901710 10.1097/NRL. 0b013e3181b287c8
12. BG Cragg 1970 What is the signal for chromatolysis? Brain Res 23 1 21 4919474 10.1016/0006-8993(70)90345-8 1:STN:280:DyaE3M%2FhtFSltQ%3D%3D
13. SM de Waegh VM Lee ST Brady 1992 Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells Cell 68 451 463 1371237 10.1016/0092-8674(92)90183-D
14. H Decker KY Lo SM Unger ST Ferreira MA Silverman 2010 Amyloid-beta peptide oligomers disrupt axonal transport through an NMDA receptor-dependent mechanism that is mediated by glycogen synthase kinase 3beta in primary cultured hippocampal neurons J Neurosci 30 9166 9171 20610750 1:CAS:528: DC%2BC3cXpt1yisb0%3D
15. D Dolcetta S Amadio U Guerrini, et al. 2005 Myelin deterioration in Twitcher mice: motor evoked potentials and magnetic resonance imaging as in vivo monitoring tools J Neurosci Res 81 597 604 15948181 10.1002/jnr.20574 1:CAS:528:DC%2BD2MXnsVCjtbo%3D (Pubitemid 41297397)
16. D Dolcetta L Perani MI Givogri, et al. 2006 Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain J Gene Med 8 962 971 16732552 10.1002/jgm.924 1:CAS:528:DC%2BD28XpsFKisrk%3D (Pubitemid 44282992)
17. HG Dunn BD Lake CL Dolman J Wilson 1969 The neuropathy of Krabbe's infantile cerebral sclerosis: globoid cell leucodystrophy Brain 92 329 344 5790252 10.1093/brain/92.2.329 1:STN:280:DyaF1M3isFWgtQ%3D%3D
18. ML Escolar MD Poe JM Provenzale, et al. 2005 Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease N Engl J Med 352 2069 2081 15901860 10.1056/NEJMoa042604 1:CAS:528:DC%2BD2MXkt1Kltrg%3D (Pubitemid 40664308)
19. G Feng RH Mellor M Bernstein, et al. 2000 Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP Neuron 28 41 51 11086982 10.1016/S0896-6273(00)00084-2 1:CAS:528:DC%2BD3cXnvVGlt7w%3D
20. F Galbiati V Basso L Cantuti, et al. 2007 Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease J Neurosci 27 13730 13738 18077684 10.1523/JNEUROSCI.3379-07.2007 1:CAS:528:DC%2BD1cXmtl0%3D (Pubitemid 350278274)
21. F Galbiati MI Givogri L Cantuti, et al. 2009 Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease J Neurosci Res 87 1748 1759 19185028 10.1002/jnr.22006 1:CAS:528:DC%2BD1MXlsVWntbw%3D
22. JE Galvin K Uryu VM Lee JQ Trojanowski 1999 Axon pathology in Parkinson's disease and Lewy body dementia hippocampus contains α-, β-, and γ-synuclein Proc Natl Acad Sci USA 96 13450 13455 10557341 10.1073/pnas.96.23.13450 1:CAS:528:DyaK1MXns1Gmur4%3D
23. Y Gavrieli Y Sherman SA Ben-Sasson 1992 Identification of programmed cell death in situ via specific labeling of nuclear DNA fragmentation J Cell Biol 119 493 501 1400587 10.1083/jcb.119.3.493 1:CAS:528:DyaK38XmtVyhsbs%3D
24. Y Gu C Gu 2010 Dynamics of Kv1 channel transport in axons PLoS One 5 e11931 20694152 10.1371/journal.pone.0011931
25. H Igisu K Suzuki 1984 Progressive accumulation of toxic metabolite in a genetic leukodystrophy Science 224 753 755 6719111 10.1126/science.6719111 1:CAS:528:DyaL2cXitVOntL0%3D (Pubitemid 14140043)
26. JM Jacobs F Scaravilli FT De Aranda 1982 The pathogenesis of globoid cell leucodystrophy in peripheral nerve of the mouse mutant twitcher J Neurol Sci 55 285 304 7131035 10.1016/0022-510X(82)90127-7 1:STN:280:DyaL3s%2Fjt1Khsw%3D%3D (Pubitemid 12049429)
27. M Jatana S Giri AK Singh 2002 Apoptotic positive cells in Krabbe brain and induction of apoptosis in rat C6 glial cells by psychosine Neurosci Lett 330 183 187 12231442 10.1016/S0304-3940(02)00655-9 1:CAS:528:DC%2BD38XmvVagurs%3D (Pubitemid 35257895)
28. K Kagitani-Shimono I Mohri T Yagi M Taniike K Suzuki 2008 Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels Acta Neuropathol 115 577 587 18172657 10.1007/s00401-007-0333-3 1:CAS:528:DC%2BD1cXksVKlsbw%3D
29. T Kanazawa S Nakamura M Momoi, et al. 2000 Inhibition of cytokinesis by a lipid metabolite, psychosine J Cell Biol 149 943 950 10811833 10.1083/jcb.149.4.943 1:CAS:528:DC%2BD3cXjtlKns7g%3D (Pubitemid 30327244)
30. HE Karnes CL Kaiser D Durham 2009 Deafferentation-induced caspase-3 activation and DNA fragmentation in chick cochlear nucleus neurons Neuroscience 159 804 818 19166907 10.1016/j.neuroscience.2008.12.031 1:CAS:528: DC%2BD1MXisFantL4%3D
31. K Krabbe 1916 A new familial, infantile form of diffuse brain sclerosis Brain 39 74 114 10.1093/brain/39.1-2.74
32. J Krijnse-Locker RG Parton SD Fuller G Griffiths CG Dotti 1995 The organization of the endoplasmic reticulum and the intermediate compartment in cultured rat hippocampal neurons Mol Biol Cell 6 1315 1332 8573789 1:CAS:528:DyaK2MXoslWrtLw%3D
33. W Krivit LA Lockman PA Watkins J Hirsch EG Shapiro 1995 The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome J Inherit Metab Dis 18 398 412 7494399 10.1007/BF00710052 1:STN:280:DyaK28%2Flt1yjsA%3D%3D
34. W Krivit EG Shapiro C Peters, et al. 1998 Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy N Engl J Med 338 1119 1126 9545360 10.1056/NEJM199804163381605 1:STN:280:DyaK1c7ps1Kiuw%3D%3D (Pubitemid 28227482)
35. W Krivit JH Sung EG Shapiro LA Lockman 1995 Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases Cell Transplant 4 385 392 7582569 10.1016/0963-6897(95)00021-O 1:STN:280:DyaK28%2FptVehsw%3D%3D
36. HJ Kurtz TF Fletcher 1970 The peripheral neuropathy of canine globoid-cell leukodystrophy (Krabbe-type) Acta Neuropathol 16 226 232 5478211 10.1007/BF00687362 1:STN:280:DyaE3M%2FjtVajtQ%3D%3D
37. H Nagara T Kobayashi K Suzuki K Suzuki 1982 The twitcher mouse: normal pattern of early myelination in the spinal cord Brain Res 244 289 294 7116177 10.1016/0006-8993(82)90087-7 1:STN:280:DyaL3s%2FgtFektg%3D%3D (Pubitemid 12044569)
38. S Ohara Y Ukita H Ninomiya K Ohno 2004 Axonal dystrophy of dorsal root ganglion sensory neurons in a mouse model of Niemann-Pick disease type C Exp Neurol 187 289 298 15144855 10.1016/j.expneurol.2004.03.002 1:CAS:528: DC%2BD2cXktV2lsrk%3D (Pubitemid 38610275)
39. CE Olmstead 1987 Neurological and neurobehavioral development of the mutant 'twitcher' mouse Behav Brain Res 25 143 153 3675825 10.1016/0166-4328(87) 90007-6 1:STN:280:DyaL1c%2FltVSmsQ%3D%3D (Pubitemid 17130624)
40. Y Sagot M Dubois-Dauphin SA Tan, et al. 1995 Bcl-2 overexpression prevents motoneuron cell body loss but not axonal degeneration in a mouse model of a neurodegenerative disease J Neurosci 15 7727 7733 7472523 1:CAS:528:DyaK2MXptlOmtrs%3D
41. WW Schlaepfer AL Prensky 1972 Quantitative and qualitative study of sural nerve biopsies in Krabbe's disease Acta Neuropathol 20 55 66 5020593 10.1007/BF00687902 1:STN:280:DyaE387msFCmsw%3D%3D
42. H Schnorf R Gitzelmann NU Bosshard M Spycher W Waespe 1995 Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease) J Neurol Neurosurg Psychiatry 59 520 523 8530938 10.1136/jnnp.59.5.520 1:STN:280:DyaK28%2Fmslejtw%3D%3D
43. P Sourander Y Olsson 1968 Peripheral neuropathy in globoid cell leucodystrophy (morbus Krabbe) Acta Neuropathol 11 69 81 4177348 10.1007/BF00692796 1:STN:280:DyaF1M%2FjvFSmug%3D%3D
44. K Suzuki 1998 Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status Neurochem Res 23 251 259 9482237 10.1023/A:1022436928925 1:CAS:528:DyaK1cXosFGhug%3D%3D (Pubitemid 28109872)
45. K Suzuki K Suzuki 1990 Myelin pathology in the twitcher mouse Ann NY Acad Sci 605 313 324 2268119 10.1111/j.1749-6632.1990.tb42405.x 1:CAS:528: DyaK3MXltFWltb4%3D
46. K Tanaka HD Webster 1993 Effects of psychosine (galactosylsphingosine) on the survival and the fine structure of cultured Schwann cells J Neuropathol Exp Neurol 52 490 498 8360702 10.1097/00005072-199309000-00007 1:CAS:528: DyaK2cXhtlWhu7o%3D (Pubitemid 23269197)
47. M Taniike I Mohri N Eguchi, et al. 1999 An apoptotic depletion of oligodendrocytes in the twitcher, a murine model of globoid cell leukodystrophy J Neuropathol Exp Neurol 58 644 653 10374755 10.1097/00005072-199906000-00009 1:STN:280:DyaK1MzgtFaqsw%3D%3D (Pubitemid 29264944)
48. J Tsai J Grutzendler K Duff WB Gan 2004 Fibrillar amyloid deposition leads to local synaptic abnormalities and breakage of neuronal branches Nat Neurosci 7 1181 1183 15475950 10.1038/nn1335 1:CAS:528:DC%2BD2cXovFamu7o%3D (Pubitemid 39426234)
49. JP van der Voorn W Kamphorst MS van der Knaap JM Powers 2004 The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction Acta Neuropathol (Berl) 107 539 545 10.1007/s00401-004-0848-9 (Pubitemid 38765395)
50. JE Vance RB Campenot DE Vance 2000 The synthesis and transport of lipids for axonal growth and nerve regeneration Biochim Biophys Acta 1486 84 96 10856715 1:CAS:528:DC%2BD3cXlt1Snt7g%3D (Pubitemid 30336794)
51. JE Vance D Pan RB Campenot M Bussiere DE Vance 1994 Evidence that the major membrane lipids, except cholesterol, are made in axons of cultured rat sympathetic neurons J Neurochem 62 329 337 8263532 10.1046/j.1471-4159.1994. 62010329.x 1:CAS:528:DyaK2cXltVyqsw%3D%3D
52. DA Wenger MA Rafi P Luzi J Datto E Costantino-Ceccarini 2000 Krabbe disease: genetic aspects and progress toward therapy Mol Genet Metab 70 1 9 10833326 10.1006/mgme.2000.2990 1:CAS:528:DC%2BD3cXjs12gsLg%3D (Pubitemid 30396199)
53. AB White F Galbiati MI Givogri, et al. 2011 Persistence of psychosine in brain lipid rafts is a limiting factor in the therapeutic recovery of a mouse model for Krabbe disease J Neurosci Res 89 352 364 21259322 10.1002/jnr.22564 1:CAS:528:DC%2BC3MXosVertg%3D%3D
54. AB White MI Givogri A Lopez-Rosas, et al. 2009 Psychosine accumulates in membrane microdomains in the brain of krabbe patients, disrupting the raft architecture J Neurosci 29 6068 6077 19439584 10.1523/JNEUROSCI.5597-08.2009 1:CAS:528:DC%2BD1MXmt1Cmtbw%3D
55. AV Whitmore T Lindsten MC Raff CB Thompson 2003 The proapoptotic proteins Bax and Bak are not involved in Wallerian degeneration Cell Death Differ 10 260 261 12700655 10.1038/sj.cdd.4401147 1:CAS:528:DC%2BD3sXivFGht74%3D (Pubitemid 36553469)
56. JH Wijsman RR Jonker R Keijzer CJ van de Velde CJ Cornelisse JH van Dierendonck 1993 A new method to detect apoptosis in paraffin sections: in situ end-labeling of fragmented DNA J Histochem Cytochem 41 7 12 7678025 10.1177/41.1.7678025 1:CAS:528:DyaK3sXlsFeluw%3D%3D (Pubitemid 23014194)
57. M Zaka DA Wenger 2004 Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation Neurosci Lett 358 205 209 15039117 10.1016/j.neulet.2003.12.126 1:CAS:528: DC%2BD2cXisVKlu78%3D (Pubitemid 38368205)
58. T Zalewska M Kanje A Edstrom 1986 A calcium-activated neutral protease in the frog nervous system which degrades rapidly transported axonal proteins Brain Res 381 58 62 2428432 10.1016/0006-8993(86)90689-X 1:CAS:528: DyaL28XmtVGiur0%3D (Pubitemid 16049657)