globoid cell leukodystrophy

Summary

Summary: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

Top Publications

  1. Luzi P, Abraham R, Rafi M, Curtis M, Hooper D, Wenger D. Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy. Brain Res. 2009;1300:146-58 pubmed publisher
    b>Globoid cell leukodystrophy (GLD) or Krabbe disease is a neurodegenerative disorder caused by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC)...
  2. Pedchenko T, Levine S. IL-6 deficiency causes enhanced pathology in Twitcher (globoid cell leukodystrophy) mice. Exp Neurol. 1999;158:459-68 pubmed
    ..M. LeVine and D. C. Brown, 1997, J. Neuroimmunol. 73, 47-56), which is an authentic animal model of globoid cell leukodystrophy (Krabbe's disease)...
  3. Taniike M, Mohri I, Eguchi N, Irikura D, Urade Y, Okada S, et al. An apoptotic depletion of oligodendrocytes in the twitcher, a murine model of globoid cell leukodystrophy. J Neuropathol Exp Neurol. 1999;58:644-53 pubmed
    ..to their depletion were studied in the genetic demyelinating mutant, twitcher, a murine model of globoid cell leukodystrophy (GLD)...
  4. Wenger D, Rafi M, Luzi P. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Hum Mutat. 1997;10:268-79 pubmed
    ..It is also called globoid cell leukodystrophy (GLD), because of the characteristic storage cells found around cerebral blood vessels in the white ..
  5. Galbiati F, Clementi G, Superchi D, Givogri M, Bongarzone E. Effects of irradiation on the postnatal development of the brain in a genetic mouse model of globoid cell leukodystrophy. Neurochem Res. 2007;32:377-88 pubmed
    Irradiation is one way to condition Twitcher mice--a natural model of globoid cell leukodystrophy (GLD)--prior to receive bone marrow transplantation (BMT). BMT showed to delay but not to completely prevent GLD disease in treated mutants...
  6. Pellegatta S, Tunici P, Poliani P, Dolcetta D, Cajola L, Colombelli C, et al. The therapeutic potential of neural stem/progenitor cells in murine globoid cell leukodystrophy is conditioned by macrophage/microglia activation. Neurobiol Dis. 2006;21:314-23 pubmed
    Twitcher (GALC(twi/twi)) is the murine model of globoid cell leukodystrophy (GLD or Krabbe disease), a disease caused by mutations of the lysosomal enzyme galactocerebrosidase (GALC)...
  7. Shen J, Watabe K, Meng X, Ida H, Ohashi T, Eto Y. Establishment and characterization of spontaneously immortalized Schwann cells from murine model of globoid cell leukodystrophy (twitcher). J Neurosci Res. 2002;68:588-94 pubmed
    The twitcher mouse is a murine model of human globoid cell leukodystrophy (GLD; Krabbe disease) caused by a genetic defect in the activity of galactosylceramidase (GALC)...
  8. Matsuda J, Vanier M, Saito Y, Tohyama J, Suzuki K. A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. Hum Mol Genet. 2001;10:1191-9 pubmed
    ..were qualitatively identical to, but generally much milder than, that seen in the typical infantile globoid cell leukodystrophy (GLD) in man (Krabbe disease) and in several other mammalian species, due to genetic deficiency of ..
  9. Krivit W, Aubourg P, Shapiro E, Peters C. Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr Opin Hematol. 1999;6:377-82 pubmed
    ..Treatment is directed to prevent or ameliorate the inexorable neurological deterioration that is the major pathophysiological event in all of these inherited metabolic storage diseases...

More Information

Publications89

  1. Chen Y, Rafi M, de Gala G, Wenger D. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet. 1993;2:1841-5 pubmed
    b>Globoid cell leukodystrophy (Krabbe disease) is an autosomal recessive disorder resulting from the deficiency of galactocerebrosidase (GALC) activity...
  2. Matsushima G, Taniike M, Glimcher L, Grusby M, Frelinger J, Suzuki K, et al. Absence of MHC class II molecules reduces CNS demyelination, microglial/macrophage infiltration, and twitching in murine globoid cell leukodystrophy. Cell. 1994;78:645-56 pubmed
    b>Globoid cell leukodystrophy (GLD) is a severe genetic demyelinating disorder with an increased number of Ia (immune response antigen) positive brain microglia/macrophages...
  3. Suzuki K. Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. Neurochem Pathol. 1985;3:53-68 pubmed
    b>Globoid cell leukodystrophy (Krabbe disease) in man is a rare genetic disorder caused by deficiency of galactosylceramidase activity...
  4. Tominaga K, Matsuda J, Kido M, Naito E, Yokota I, Toida K, et al. Genetic background markedly influences vulnerability of the hippocampal neuronal organization in the "twitcher" mouse model of globoid cell leukodystrophy. J Neurosci Res. 2004;77:507-16 pubmed
    The twitcher mouse is well known as a naturally occurring authentic mouse model of human globoid cell leukodystrophy (GLD; Krabbe disease) due to genetic deficiency of lysosomal galactosylceramidase...
  5. Terrell K, Rasmussen T, Trygg C, Bunnell B, Buck W. Molecular beacon genotyping for globoid cell leukodystrophy from hair roots in the twitcher mouse and rhesus macaque. J Neurosci Methods. 2007;163:60-6 pubmed
    ..The rhesus macaque and murine (twitcher) models of globoid cell leukodystrophy have a dinucleotide deletion or single nucleotide substitution, respectively, which abolish ceramide ..
  6. Itoh M, Hayashi M, Fujioka Y, Nagashima K, Morimatsu Y, Matsuyama H. Immunohistological study of globoid cell leukodystrophy. Brain Dev. 2002;24:284-90 pubmed
    We examined three autopsy cases of globoid cell leukodystrophy (GLD) with different survival, using immunohistochemistry and in situ nick end labeling (ISEL)...
  7. Esch S, Williams T, Biswas S, Chakrabarty A, Levine S. Sphingolipid profile in the CNS of the twitcher (globoid cell leukodystrophy) mouse: a lipidomics approach. Cell Mol Biol (Noisy-le-grand). 2003;49:779-87 pubmed
    b>Globoid cell leukodystrophy (Krabbe disease) is caused by mutations in galactosylceramidase, a lysosomal enzyme that acts to digest galactosylceramide, a glycolipid concentrated in myelin, and psychosine (galactosylsphingosine)...
  8. Rafi M, Zhi Rao H, Passini M, Curtis M, Vanier M, Zaka M, et al. AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. Mol Ther. 2005;11:734-44 pubmed
    b>Globoid cell leukodystrophy (GLD) or Krabbe disease is a neurodegenerative disorder caused by a deficiency of galactocerebrosidase (GALC) activity...
  9. Lee W, Courtenay A, Troendle F, Stallings Mann M, Dickey C, DeLucia M, et al. Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy. FASEB J. 2005;19:1549-51 pubmed
    b>Globoid cell leukodystrophy (GLD) or Krabbe disease is a devastating, degenerative neurological disorder caused by mutations in the galactosylceramidase (GALC) gene that severely affect enzyme activity...
  10. Furuya H, Kukita Y, Nagano S, Sakai Y, Yamashita Y, Fukuyama H, et al. Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Hum Genet. 1997;100:450-6 pubmed
    We examined galactosylceramidase (GALC) cDNA in four Japanese patients with adult onset globoid cell leukodystrophy (Krabbe disease; AO-GLD) by polymerase chain reaction/single-strand conformation polymorphism (PCR-SSCP) analysis, ..
  11. Wenger D, Victoria T, Rafi M, Luzi P, Vanier M, Vite C, et al. Globoid cell leukodystrophy in cairn and West Highland white terriers. J Hered. 1999;90:138-42 pubmed
    Krabbe disease or globoid cell leukodystrophy (GLD) is an autosomal recessive disorder resulting from the defective lysosomal hydrolysis of specific galactolipids found primarily in myelin...
  12. Borda J, Alvarez X, Mohan M, Ratterree M, Phillippi Falkenstein K, Lackner A, et al. Clinical and immunopathologic alterations in rhesus macaques affected with globoid cell leukodystrophy. Am J Pathol. 2008;172:98-111 pubmed publisher
    b>Globoid cell leukodystrophy, or Krabbe's disease, is a severe disorder of the central and peripheral nervous system caused by the absence of galactocerebrosidase (GALC) activity...
  13. Igisu H, Suzuki K. Progressive accumulation of toxic metabolite in a genetic leukodystrophy. Science. 1984;224:753-5 pubmed
    ..in the brain of the genetic galactosylceramidase deficiency disease in the dog and in human patients (globoid cell leukodystrophy or Krabbe disease). Galactosylphingosine was absent in the brains of normal and heterozygous mice...
  14. Hofling A, Kim J, Fantz C, Sands M, Song S. Diffusion tensor imaging detects axonal injury and demyelination in the spinal cord and cranial nerves of a murine model of globoid cell leukodystrophy. NMR Biomed. 2009;22:1100-6 pubmed publisher
    b>Globoid cell leukodystrophy is an inherited neurodegenerative disorder caused by a deficiency of the lysosomal enzyme galactosylceramidase...
  15. Lee W, Tsoi Y, Troendle F, DeLucia M, Ahmed Z, Dicky C, et al. Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy. FASEB J. 2007;21:2520-7 pubmed
    b>Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a devastating, degenerative neurological disorder...
  16. Biswas S, Levine S. Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy. Pediatr Res. 2002;51:40-7 pubmed
    b>Globoid cell leukodystrophy is an autosomal recessive disease with progressive demyelination caused by a deficiency of the lysosomal enzyme galactosylceramidase...
  17. Luzi P, Rafi M, Victoria T, Baskin G, Wenger D. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Genomics. 1997;42:319-24 pubmed
    Krabbe disease or globoid cell leukodystrophy (GLD) is a severe lysosomal disorder resulting from the deficiency of galactocerebrosidase (GALC) activity...
  18. Lee W, Kang D, Causevic E, Herdt A, Eckman E, Eckman C. Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. J Neurosci. 2010;30:5489-97 pubmed publisher
    b>Globoid cell leukodystrophy (GLD) (Krabbe disease) is an autosomal recessive, degenerative, lysosomal storage disease caused by a severe loss of galactocerebrosidase (GALC) enzymatic activity...
  19. Biswas S, Pinson D, Bronshteyn I, Levine S. IL-6 deficiency allows for enhanced therapeutic value after bone marrow transplantation across a minor histocompatibility barrier in the twitcher (globoid cell leukodystrophy) mouse. J Neurosci Res. 2001;65:298-307 pubmed
    Bone marrow transplantation (BMT) has therapeutic value for twitcher (globoid cell leukodystrophy) mice, which suffer from a genetic deficiency of the lysosomal enzyme galactosylceramidase that leads to progressive demyelination and ..
  20. Luzi P, Rafi M, Zaka M, Curtis M, Vanier M, Wenger D. Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). Mol Genet Metab. 2001;73:211-23 pubmed
    b>Globoid cell leukodystrophy (Krabbe disease) is a severe leukodystrophy caused by mutations in the galactocerebrosidase (GALC) gene leading to extremely low (less than 5% of normal activity) GALC activity...
  21. De Gasperi R, Gama Sosa M, Sartorato E, Battistini S, Raghavan S, Kolodny E. Molecular basis of late-life globoid cell leukodystrophy. Hum Mutat. 1999;14:256-62 pubmed
    b>Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC)...
  22. Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): update. J Child Neurol. 2003;18:595-603 pubmed
    The classic globoid cell leukodystrophy (Krabbe's disease) is caused by genetic defects in a lysosomal enzyme, galactosylceramidase. It is one of the two classic genetic leukodystrophies, together with metachromatic leukodystrophy...
  23. McGowan J, Haskins M, Wenger D, Vite C. Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast: preliminary results. J Comput Assist Tomogr. 2000;24:316-21 pubmed
    This study was designed to examine the use of quantitative magnetization transfer imaging (MTI) in naturally occurring globoid cell leukodystrophy (GLD) in the Cairn terrier.
  24. Kobayashi T, Yamanaka T, Jacobs J, Teixeira F, Suzuki K. The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease). Brain Res. 1980;202:479-83 pubmed
    ..of mouse which shows clinical and histopathological features similar to those of human and canine globoid cell leukodystrophy (Krabbe disease)...
  25. Boelens J. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis. 2006;29:413-20 pubmed
    ..A good functioning worldwide registry would be necessary to measure the effects of the procedures performed in more detail. ..
  26. Shen J, Meng X, Yokoo T, Sakurai K, Watabe K, Ohashi T, et al. Widespread and highly persistent gene transfer to the CNS by retrovirus vector in utero: implication for gene therapy to Krabbe disease. J Gene Med. 2005;7:540-51 pubmed
    ..This study suggests that brain-directed in utero gene transfer using retrovirus vector may be beneficial to the treatment of lysosomal storage diseases with severe brain damage early in life, such as Krabbe disease. ..
  27. Contreras M, Haq E, Uto T, Singh I, Singh A. Psychosine-induced alterations in peroxisomes of twitcher mouse liver. Arch Biochem Biophys. 2008;477:211-8 pubmed publisher
    ..These observations indicate that twitcher mouse pathobiology extends to the liver, where psychosine-induced TNF-alpha and IL-6 compromise peroxisomal structure and functions. ..
  28. Weinberg K. Early use of drastic therapy. N Engl J Med. 2005;352:2124-6 pubmed
  29. Romano A, De Simone R, Fasoli F, Ferrante M, Cipriani V, Fantozzi L, et al. Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study. J Neuroimaging. 2009;19:191-3 pubmed publisher
    ..We described a different involvement of white matter tracts where magnetic resonance signal alterations were evident in a case of a patient affected by late-onset form of disease. ..
  30. Yagi T, Matsuda J, Takikita S, Mohri I, Suzuki K, Suzuki K. Comparative clinico-pathological study of saposin-A-deficient (SAP-A-/-) and Twitcher mice. J Neuropathol Exp Neurol. 2004;63:721-34 pubmed
    The Twitcher mouse (twi/twi) has been widely used as an animal model of globoid cell leukodystrophy (GLD; Krabbe disease), a hereditary leukodystrophy due to genetic galactosylceramidase deficiency...
  31. Yagi T, Matsuda J, Tominaga K, Suzuki K, Suzuki K. Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease. J Neuropathol Exp Neurol. 2005;64:565-75 pubmed
    ..In contrast, the peripheral nerves showed features of hypertrophic neuropathy with hypomyelination and onion bulb formation, suggesting that there are different cellular responses to the BMT in the CNS and PNS. ..
  32. Chretien F, Servan J, Elghozi D, Fontaine B, Brion F, Ereau T, et al. [Familial orthochromatic leukodystrophy: clinicopathological study of two cases]. Rev Neurol (Paris). 2001;157:178-86 pubmed
  33. Korn Lubetzki I, Dor Wollman T, Soffer D, Raas Rothschild A, Hurvitz H, Nevo Y. Early peripheral nervous system manifestations of infantile Krabbe disease. Pediatr Neurol. 2003;28:115-8 pubmed
    ..Krabbe disease should be considered in the differential diagnosis of early infantile peripheral neuropathy. Early diagnosis of affected children might be important for genetic counseling for families at risk. ..
  34. Cartier N, Aubourg P. Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy. Curr Opin Mol Ther. 2008;10:471-8 pubmed
    ..Promising in concept, these strategies are now at a stage to be tested in phase I/II clinical trials to assess safety and potential efficacy. ..
  35. Villegas Castrejon H, Hernández Pérez A, Peralta S, Vázquez Escamilla J, Reyes Marín B. [Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy. Case report]. Cir Cir. 2006;74:477-81 pubmed
    ..In this patient, diagnosis of Krabbe's disease was delayed and established several years after the initial symptoms. Electron microscopic examination of a sural nerve provided evidence for a diagnosis of Krabbe's leukodystrophy. ..
  36. Vanderver A, Hathout Y, Maletkovic J, Gordon E, Mintz M, Timmons M, et al. Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder. Neurology. 2008;70:2226-32 pubmed publisher
    ..This rapid (<48 hours) and inexpensive diagnostic tool for eIF2B-related disorders has the potential to identify patients with likely eIF2B-related disorder for mutation analysis. ..
  37. Maher K, Yeager A. Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations. J Neurosci Res. 2016;94:1180-8 pubmed publisher
    b>Globoid cell leukodystrophy (GLD) is a progressive neurodegenerative disorder caused by the deficiency of galactocerebrosidase (GALC), resulting in accumulation of toxic metabolites in neural tissues...
  38. Goldman S, Schanz S, Windrem M. Stem cell-based strategies for treating pediatric disorders of myelin. Hum Mol Genet. 2008;17:R76-83 pubmed publisher
  39. Ganesan K, Desai S, Hegde A. Multiple cranial nerve enhancement: uncommon imaging finding in early infantile Krabbe's disease. J Neuroimaging. 2010;20:195-7 pubmed publisher
    ..We present an 8-month-old infant with early infantile Krabbe's disease with enhancement of multiple cranial nerves and optic nerve hypertrophy. ..
  40. Karumuthil Melethil S, Marshall M, Heindel C, Jakubauskas B, Bongarzone E, Gray S. Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant. J Neurosci Res. 2016;94:1138-51 pubmed publisher
    b>Globoid cell leukodystrophy (GLD), or Krabbe disease, is an autosomal recessive neurodegenerative disease caused by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC)...
  41. Biswas S, Biesiada H, Williams T, Levine S. Substrate reduction intervention by L-cycloserine in twitcher mice (globoid cell leukodystrophy) on a B6;CAST/Ei background. Neurosci Lett. 2003;347:33-6 pubmed
    b>Globoid cell leukodystrophy (GCL) is usually a fatal demyelinating disease caused by mutations in galactosylceramidase, which normally recycles galactosylceramide, a predominant glycolipid of myelin, and psychosine...
  42. Nicaise A, Bongarzone E, Crocker S. A microglial hypothesis of globoid cell leukodystrophy pathology. J Neurosci Res. 2016;94:1049-61 pubmed publisher
    b>Globoid cell leukodystrophy (GLD), also known as Krabbe's disease, is a fatal demyelinating disease accompanied by the formation of giant, multinucleated cells called globoid cells...
  43. Moller J, Sünkeler I, Oertel W, Mennel H. [Pigmented form of orthochromatic leukodystrophy]. Nervenarzt. 2003;74:1127-33 pubmed
    ..and could relate the pigmented form of orthochromatic leukodystrophy to the genetically defined globoid cell leukodystrophy (Krabbe's disease)...
  44. Young P, Fantz C, Sands M. VEGF disrupts the neonatal blood-brain barrier and increases life span after non-ablative BMT in a murine model of congenital neurodegeneration caused by a lysosomal enzyme deficiency. Exp Neurol. 2004;188:104-14 pubmed
    ..Administration of VEGF before BMT in newborn mice with a neurodegenerative LSD, globoid-cell leukodystrophy, resulted in a significant increase in life span compared to affected animals that were injected with saline before BMT. ..
  45. De Gasperi R, Friedrich V, Perez G, Senturk E, Wen P, Kelley K, et al. Transgenic rescue of Krabbe disease in the twitcher mouse. Gene Ther. 2004;11:1188-94 pubmed
    ..Since pathological damage associated with GALC deficiency is confined to the nervous system, our work represents the first successful rescue of the twitcher mouse and opens the possibility of developing novel therapeutic approaches. ..
  46. Escolar M, Poe M, Smith J, Gilmore J, Kurtzberg J, Lin W, et al. Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease. AJNR Am J Neuroradiol. 2009;30:1017-21 pubmed publisher
    ..Once standardized and validated, this tool has the potential to be used as a marker of disease progression in neonates diagnosed through statewide neonate screening programs. ..
  47. Tatsumi N, Inui K, Sakai N, Fukushima H, Nishimoto J, Yanagihara I, et al. Molecular defects in Krabbe disease. Hum Mol Genet. 1995;4:1865-8 pubmed
    Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous systems due to an enzymatic defect of the galactocerebrosidase...
  48. Husain A, Altuwaijri M, Aldosari M. Krabbe disease: neurophysiologic studies and MRI correlations. Neurology. 2004;63:617-20 pubmed
    ..These studies offer an objective means of assessing KD and correlate well with disease severity measured by MRI scans. ..
  49. Skiba M, Lyerla T, Konola J, Raghavan S. Somatic cell genetic analysis of the galactocerebrosidase gene: lack of complementation in human Krabbe disease/twitcher mouse cell hybrids. J Neurosci Res. 1990;27:472-8 pubmed
    ..C. 3.2.1.46: galactocerebrosidase) activity results in globoid cell leukodystrophy in humans (Krabbe disease) and in mice (twitcher mutant)...
  50. Sahai I, Baris H, Kimonis V, Levy H. Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. J Child Neurol. 2005;20:826-8 pubmed
    Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive disorder caused by a deficiency of a lysosomal enzyme, galactocerebrosidase...
  51. Lissens W, Arena A, Seneca S, Rafi M, Sorge G, Liebaers I, et al. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. Hum Mutat. 2007;28:742 pubmed
    ..This is also supported by the fact that the mutation was not found in three late onset patients from other regions in Sicily, in whom four novel mutations were identified. ..
  52. Morse L, Rosman N. Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type. Pediatr Neurol. 2006;35:154-7 pubmed
    ..This report describes an 18-month-old male with late-onset Krabbe disease who is the first such reported patient presenting with myoclonic seizures, an epileptic encephalopathy normally thought to reflect gray matter disease...
  53. Simpson S, Edwards L, Muller K, Sen P, Styner M. A linear exponent AR(1) family of correlation structures. Stat Med. 2010;29:1825-38 pubmed publisher
    ..Both medical imaging data concerning neonate neurological development and longitudinal data concerning diet and hypertension [DASH (Dietary Approaches to Stop Hypertension) study] exemplify the utility of the LEAR correlation structure...
  54. Orsini J, MORRISSEY M, Slavin L, Wojcik M, Biski C, Martin M, et al. Implementation of newborn screening for Krabbe disease: population study and cutoff determination. Clin Biochem. 2009;42:877-84 pubmed publisher
    ..The aim of this study was to develop a newborn screening algorithm for Krabbe disease...
  55. Kagitani Shimono K, Mohri I, Yagi T, Taniike M, Suzuki K. Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels. Acta Neuropathol. 2008;115:577-87 pubmed publisher
    b>Globoid cell leukodystrophy (GLD; Krabbe's disease), caused by a genetic galactosylceramidase deficiency, affects both the central and peripheral nervous systems (CNS and PNS)...
  56. Suzuki K, Ohno M. Expression of immune-related molecules in a murine genetic demyelinating disease. Prog Brain Res. 1995;105:289-94 pubmed
  57. Ezoe T, Vanier M, Oya Y, Popko B, Tohyama J, Matsuda J, et al. Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements. J Neurosci Res. 2000;59:179-87 pubmed
  58. Galbiati F, Givogri M, Cantuti L, Rosas A, Cao H, van Breemen R, et al. Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease. J Neurosci Res. 2009;87:1748-59 pubmed publisher
    ..These results suggest that GALC deficiency not only affects myelinating glia but also leads to neuronal dysfunction. The contemporaneous neuropathology might help to explain the limited efficacy of current gene and cell therapies...
  59. Provenzale J, Peddi S, Kurtzberg J, Poe M, Mukundan S, Escolar M. Correlation of neurodevelopmental features and MRI findings in infantile Krabbe's disease. AJR Am J Roentgenol. 2009;192:59-65 pubmed publisher
    ..The purpose of our study was to compare MRI findings with neurobehavioral development in infants with Krabbe's disease...
  60. Duffner P, Jalal K, Carter R. The Hunter's Hope Krabbe family database. Pediatr Neurol. 2009;40:13-8 pubmed publisher
  61. Lin D, Fantz C, Levy B, Rafi M, Vogler C, Wenger D, et al. AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2. Mol Ther. 2005;12:422-30 pubmed
    ..However, the clinical improvements, as assessed by behavioral tests and life span, were only modest...
  62. Ide F, Mishima K, Saito I. Ectomesenchymal chondromyxoid tumor of the anterior tongue with myxoglobulosislike change. Virchows Arch. 2003;442:302-3 pubmed
  63. Moser H. Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and evaluation. Neurology. 2006;67:201-2 pubmed
  64. Hung P, Wang H. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene. Dev Med Child Neurol. 2007;49:65-7 pubmed
    ..However, leukodystrophy in Leigh syndrome associated with m.9176T>C mutation has never been reported before. We suggest that m.9176T>C mutation could be a new aetiology for leukodystrophy in children with Leigh syndrome...
  65. Kleijer W, van Diggelen O, Halley D, Van der Ploeg A, Mancini G. [From gene to disease; Krabbe disease and galactosylceramidase deficiency]. Ned Tijdschr Geneeskd. 2004;148:826-8 pubmed
    ..Early diagnosis by enzyme assay in leukocytes or skin fibroblasts permits timely genetic counselling and prenatal diagnosis, which is reliably made by enzyme or mutation analysis in the chorionic villi...
  66. Capucchio M, Prunotto M, Lotti D, Valazza A, Galloni M, Dore B, et al. Krabbe's disease in two West Highland White terriers. Clin Neuropathol. 2008;27:295-301 pubmed
    ..The diagnosis of Krabbe's disease was performed based on the clinical evaluation, morphological, histochemical and ultrastructural features...
  67. Nagar V, Ursekar M, Krishnan P, Jankharia B. Krabbe disease: unusual MRI findings. Pediatr Radiol. 2006;36:61-4 pubmed
    ..Enlargement of the intracranial optic nerves and cervical cord were detected in addition to more typical changes in the cerebral white matter and thalami. We also review the proton MR spectroscopic findings in Krabbe disease...
  68. Fletcher J, Williamson P, Horan D, Taylor R. Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). J Am Vet Med Assoc. 2010;237:682-8 pubmed publisher
    To characterize the clinical signs of globoid cell leukodystrophy (GLD) in Australian Kelpies from a working line (AWKs) and determine whether an association existed between these signs and degrees of demyelination and inflammatory ..
  69. Visigalli I, Ungari S, Martino S, Park H, Cesani M, Gentner B, et al. The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche. Blood. 2010;116:1857-66 pubmed publisher
    ..findings here described indicate that the lysosomal galactocerebrosidase (GALC) enzyme, defective in globoid cell leukodystrophy, is involved in the maintenance of a functional hematopoietic stem/progenitor cell (HSPC) niche by ..
  70. Yeager A, Brennan S, Tiffany C, Moser H, Santos G. Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. Science. 1984;225:1052-4 pubmed
    ..Strategies to perturb the blood-brain barrier may be necessary for enzyme replacement to be therapeutic in diseases with central nervous system manifestations...
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    Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive disorder of white matter resulting from deficiency of galactosylceramide beta-galactosidase (GALC) and the consequent accumulation of galactosylceramide and ..
  72. Gaipa G, Dassi M, Perseghin P, Venturi N, Corti P, Bonanomi S, et al. Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases. Bone Marrow Transplant. 2003;31:857-60 pubmed
    ..5 x 10(6)/kg of CD34+ cells was infused. All patients engrafted at a median time of 12 days and none of the patients developed GVHD. This method is technically feasible and can be successfully used to transplant children with IMSD...
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    ..With the progression of the disease, these cells became shrunk showing the ultrastructural and biochemical characteristics of apoptosis. This may provide a key to the future treatment of Krabbe disease...
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    b>Globoid cell leukodystrophy, or Krabbe disease, is a severe, autosomal recessive disorder resulting from a deficiency of galactocerebrosidase (GALC) activity...
  76. Meola G. [Neuroimaging in the early diagnosis of Krabbe leukodystrophy types 1 and 2]. Pediatr Med Chir. 2007;29:221-2 pubmed
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    ..The fetus from his mother's next pregnancy was similarly affected. The possibility that the disorder results from a primary defect at the level of SAP-2 is discussed. We have named this unique disorder SAP deficiency...
  78. Suzuki K. The twitcher mouse: a model for Krabbe disease and for experimental therapies. Brain Pathol. 1995;5:249-58 pubmed
    ..It is therefore genetically equivalent to human globoid cell leukodystrophy (Krabbe disease)...
  79. Dietzmann K. [Lipid and lectin histochemical studies of neurolipidosis]. Zentralbl Allg Pathol. 1989;135:403-15 pubmed
    ..Hence, the findings recorded by ALROY et al. (1986) from Twitcher mice, an animal model of galactosylceramidosis, have been confirmed by human material...
  80. Luzi P, Rafi M, Zaka M, Rao H, Curtis M, Vanier M, et al. Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation. Mol Genet Metab. 2005;86:150-9 pubmed
    b>Globoid cell leukodystrophy (GLD) is a disorder of the central and peripheral nervous systems caused by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC)...