metachromatic leukodystrophy

Summary

Summary: An autosomal recessive lysosomal storage disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to an accumulation of cerebroside sulfate in the nervous system and other organs. Pathologic features include diffuse demyelination and metachromatically-staining granules within glial cells, macrophages, and free in tissue. Clinical subtypes include late infantile, juvenile, and adult forms. The late infantile form presents at 12-18 months of age with progressive psychomotor retardation, ATAXIA, spasticity, and OPTIC ATROPHY. The juvenile form has onset at 4-12 years and features behavioral alterations and ataxia followed by spasticity, DEMENTIA, and visual loss. The adult form presents in the second decade or later with psychiatric manifestations, gait difficulties, and less often as a peripheral neuropathy. (From Menkes, Textbook of Child Neurology, 5th ed, pp192-5)

Top Publications

  1. ncbi Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene
    N M Pastor-Soler
    Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    Hum Mutat 4:199-207. 1994
  2. pmc Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice
    Alessandra Biffi
    San Raffaele Telethon Institute for Gene Therapy, Vita Salute San Raffaele University, Milan, Italy
    J Clin Invest 116:3070-82. 2006
  3. doi Metachromatic leukodystrophy: an overview of current and prospective treatments
    A Biffi
    San Raffaele Telethon Institute for Gene Therapy, San Raffaele Scientific Institute, Milan, Italy
    Bone Marrow Transplant 42:S2-6. 2008
  4. ncbi Molecular basis of different forms of metachromatic leukodystrophy
    A Polten
    Department of Biochemistry II, Georg August Universitat Gottingen, Germany
    N Engl J Med 324:18-22. 1991
  5. doi Metachromatic leukodystrophy--an update
    V Gieselmann
    Department of Physiology, University of Bonn, Germany
    Neuropediatrics 41:1-6. 2010
  6. ncbi In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice
    A Consiglio
    Telethon Institute for Gene Therapy and Department of Neurology, Scientific Institute H.S. Raffaele HSR-TIGET, Milan, Italy
    Nat Med 7:310-6. 2001
  7. ncbi Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene
    Ana M Marcão
    Institute of Physiological Chemistry, University of Bonn, Bonn, Germany
    Arch Neurol 62:309-13. 2005
  8. ncbi Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations
    U Matzner
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhelms Universitat, Bonn, Germany
    Gene Ther 9:53-63. 2002
  9. ncbi Ex vivo cell-mediated gene therapy for metachromatic leukodystrophy using neurospheres
    Ken Kawabata
    Department of Biochemistry and Molecular Biology, Nippon Medical School, Japan
    Brain Res 1094:13-23. 2006
  10. ncbi An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy
    J S Harvey
    Department of Chemical Pathology, Adelaide Children s Hospital, Australia
    Hum Mutat 2:261-7. 1993

Research Grants

  1. CHEMICAL PATHOLOGY OF NEUROLOGICAL DISORDERS
    Kunihiko Suzuki; Fiscal Year: 1993
  2. CHEMICAL PATHOLOGY OF NEUROLOGICAL DISORDERS
    Kunihiko Suzuki; Fiscal Year: 1999
  3. MULTIPLEX ANALYSIS OF INBORN ERRORS OF METABOLISM
    FRANTISEK contact TURECEK; Fiscal Year: 2010
  4. MULTIPLEX ANALYSIS OF INBORN ERRORS OF METABOLISM
    Frantisek Turecek; Fiscal Year: 2007
  5. MULTIPLEX ANALYSIS OF INBORN ERRORS OF METABOLISM
    Frantisek Turecek; Fiscal Year: 2007
  6. Imaging the Pathophysiology of AMN in Mice and Humans
    Florian Eichler; Fiscal Year: 2007
  7. MODULATION OF PRB2/P130 MEDIATED GROWTH SUPPRESSION
    Antonio Giordano; Fiscal Year: 2002
  8. Interaction between HIV-1 and cell cycle proteins
    Antonio Giordano; Fiscal Year: 2003
  9. CNS DEFECT IN A MURINE ZELLWEGER SYNDROME MODEL
    Phyllis Faust; Fiscal Year: 2002
  10. CNS defects in a murine Zellweger syndrome model
    Phyllis Faust; Fiscal Year: 2007

Detail Information

Publications194 found, 100 shown here

  1. ncbi Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene
    N M Pastor-Soler
    Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    Hum Mutat 4:199-207. 1994
    b>Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder of myelin metabolism, resulting from the inability to properly degrade 3-sulfogalactosylceramide (sulfatide)...
  2. pmc Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice
    Alessandra Biffi
    San Raffaele Telethon Institute for Gene Therapy, Vita Salute San Raffaele University, Milan, Italy
    J Clin Invest 116:3070-82. 2006
    b>Metachromatic leukodystrophy (MLD) is a demyelinating lysosomal storage disorder for which new treatments are urgently needed...
  3. doi Metachromatic leukodystrophy: an overview of current and prospective treatments
    A Biffi
    San Raffaele Telethon Institute for Gene Therapy, San Raffaele Scientific Institute, Milan, Italy
    Bone Marrow Transplant 42:S2-6. 2008
    ..subsets of patients with some LSDs, but results have been poor in several other disorders, including metachromatic leukodystrophy (MLD), outlining the need for innovative therapeutic approaches in this field...
  4. ncbi Molecular basis of different forms of metachromatic leukodystrophy
    A Polten
    Department of Biochemistry II, Georg August Universitat Gottingen, Germany
    N Engl J Med 324:18-22. 1991
    b>Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disorder caused by a deficiency of arylsulfatase A...
  5. doi Metachromatic leukodystrophy--an update
    V Gieselmann
    Department of Physiology, University of Bonn, Germany
    Neuropediatrics 41:1-6. 2010
    b>Metachromatic leukodystrophy (MLD) is a rare lysosomal sphingolipid storage disorder, caused by a deficiency of arylsulfatase A (ASA). It is inherited in an autosomal recessive way, among Caucasians three causing alleles are frequent...
  6. ncbi In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice
    A Consiglio
    Telethon Institute for Gene Therapy and Department of Neurology, Scientific Institute H.S. Raffaele HSR-TIGET, Milan, Italy
    Nat Med 7:310-6. 2001
    b>Metachromatic leukodystrophy (MLD) is a lipidosis caused by deficiency of arylsulfatase A (ARSA). Although the genetics of MLD are known, its pathophysiology is not understood...
  7. ncbi Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene
    Ana M Marcão
    Institute of Physiological Chemistry, University of Bonn, Bonn, Germany
    Arch Neurol 62:309-13. 2005
    b>Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA)...
  8. ncbi Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations
    U Matzner
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhelms Universitat, Bonn, Germany
    Gene Ther 9:53-63. 2002
    Arylsulfatase A (ASA) knockout mice represent an animal model for the lysosomal storage disease metachromatic leukodystrophy (MLD)...
  9. ncbi Ex vivo cell-mediated gene therapy for metachromatic leukodystrophy using neurospheres
    Ken Kawabata
    Department of Biochemistry and Molecular Biology, Nippon Medical School, Japan
    Brain Res 1094:13-23. 2006
    b>Metachromatic leukodystrophy (MLD) is an autosomal recessive disease caused by mutations in the gene encoding the lysosomal enzyme arylsulfatase A (ASA)...
  10. ncbi An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy
    J S Harvey
    Department of Chemical Pathology, Adelaide Children s Hospital, Australia
    Hum Mutat 2:261-7. 1993
    b>Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A (ARSA; EC 3.1.6.8)...
  11. ncbi Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts
    Antonella Consiglio
    Telethon Institute for Gene Therapy TIGET and DIBIT, San Raffaele Scientific, Institute, Milan, Italy
    J Neurol Sci 255:7-16. 2007
    ..an encapsulated cell-based system to deliver arylsulfatase A (ARSA) to the central nervous system of metachromatic leukodystrophy (MLD) patients, we engineered C2C12 mouse myoblasts with a retroviral vector containing a full-length ..
  12. doi Biochemical profiling to predict disease severity in metachromatic leukodystrophy
    M A F Tan
    Lysosomal Diseases Research Unit, SA Pathology at Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Mol Genet Metab 99:142-8. 2010
    b>Metachromatic leukodystrophy is a neurodegenerative disease that is characterized by a deficiency of arylsulfatase A, resulting in the accumulation of sulfatide and other lipids in the lysosomal network of affected cells...
  13. ncbi Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution
    D Wittke
    Department of Anatomy, University of Kiel, Olshausenstrasse 40, 24098 Kiel, Germany
    Acta Neuropathol 108:261-71. 2004
    ..A (ASA) leads to lysosomal storage of sulfatides and to dramatic demyelination in the CNS of humans (metachromatic leukodystrophy, MLD)...
  14. ncbi Neuromotor alterations and cerebellar deficits in aged arylsulfatase A-deficient transgenic mice
    R D'hooge
    Laboratory of Neurochemistry and Behavior at Born Bunge Foundation, University of Antwerp1, Belgium
    Neurosci Lett 273:93-6. 1999
    ..mice and ASA(+/+) controls were constructed as a transgenic model for the lysosomal storage disease, metachromatic leukodystrophy (MLD)...
  15. ncbi Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression
    R G M Bredius
    Bone Marrow Transplant 39:309-10. 2007
  16. doi In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells
    Valeska Lizzi Lagranha
    Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    Metab Brain Dis 23:469-84. 2008
    b>Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder due to arylsulfatase A (ARSA) deficiency that affects primarily the central nervous system...
  17. ncbi Embryonic stem cell-based reduction of central nervous system sulfatide storage in an animal model of metachromatic leukodystrophy
    D Klein
    Institute of Physiological Chemistry, University of Bonn, Bonn, Germany
    Gene Ther 13:1686-95. 2006
    ..overexpress human arylsulfatase A (hASA) can cross-correct the metabolic defect in an animal model of metachromatic leukodystrophy (MLD). Transfected ES cells showed an up to 30-fold increase in ASA activity...
  18. ncbi Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy
    A Capotondo
    San Raffaele Telethon Institute for Gene Therapy, 20132 Milan, Italy
    Hum Gene Ther 18:821-36. 2007
    Successful gene therapy approaches for metachromatic leukodystrophy (MLD), based either on hematopoietic stem/progenitor cells (HSPCs) or direct central nervous system (CNS) gene transfer, highlighted a requirement for high levels of ..
  19. ncbi Gene therapy of metachromatic leukodystrophy
    Ulrich Matzner
    Rheinische Friedrich Wilhelms Universitat, Institut fur Physiologische Chemie, Nussallee 11, D 53115 Bonn, Germany
    Expert Opin Biol Ther 5:55-65. 2005
    b>Metachromatic leukodystrophy (MLD) is a lysosomal storage disease that is caused by a deficiency of arylsulfatase A (ASA)...
  20. ncbi Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy
    Rixa von Bülow
    Georg August Universitat Gottingen, Abt Biochemie II, Heinrich Düker Weg 12, Gottingen 37073, Germany
    J Biol Chem 277:9455-61. 2002
    In one of the most common mutations causing metachromatic leukodystrophy, the P426L-allele of arylsulfatase A (ASA), the deficiency of ASA results from its instability in lysosomes...
  21. ncbi Hemorrhagic cholecystitis as a likely cause of nontraumatic hemobilia in metachromatic leukodystrophy: report of a case
    N Vettoretto
    Clinica Chirurgica, Universita di Brescia
    Ann Ital Chir 72:725-8. 2001
    ..Histologic examination with specific colorations diagnosed hemorrhagic cholecystitis from metachromatic leukodystrophy of the gallbladder...
  22. doi Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy
    A M Bisgaard
    Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
    Clin Genet 75:175-9. 2009
    ..One patient had a pathogenic mutation in the arylsulfatase A gene (ARSA) and succumbed to metachromatic leukodystrophy (MLD). The other patient had a pseudoallele, which does not lead to MLD...
  23. ncbi Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy
    Maria I Givogri
    Telethon Institute for Gene Therapy, San Raffaele Scientific Institute, 20132 Milan, Italy
    J Neurosci 26:3109-19. 2006
    ..cell therapy for presymptomatic arylsulfatase A (ARSA) null neonate mice, a murine model for human metachromatic leukodystrophy (MLD)...
  24. ncbi Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?
    Nicole Baumann
    Laboratory of Neurochemistry, INSERM Unit 495, Salpetriere Hospital, Paris, France
    J Physiol Paris 96:301-6. 2002
    b>Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is biochemically characterized by an accumulation of sulfatides (sulfogalactosylceramides) mainly in oligodendrocytes and macrophages/microglia...
  25. doi Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report
    N Meuleman
    Department of Clinical and Experimental Hematology, Institut Jules Bordet, Universite Libre de Bruxelles ULB, Bruxelles, Belgium
    Haematologica 93:e11-3. 2008
    We report the case of a 23-year-old woman who presented with an adult form of metachromatic leukodystrophy (MLD) evolving over one year with a progressive neurological deterioration...
  26. doi Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy
    Evren Onder
    Department of Biochemistry, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey
    Neurol Res 31:60-6. 2009
    b>Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A or saposin B. Enzyme deficiency leads to the accumulation of sulfatide, which results in severe demyelination.
  27. pmc Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells
    Alessandra Biffi
    San Raffaele Telethon Institute for Gene Therapy, San Raffaele Scienctific Institute, Milan, Italy
    J Clin Invest 113:1118-29. 2004
    ..therapeutic genes to the CNS and PNS of transplanted mice and correct a neurodegenerative disorder, metachromatic leukodystrophy (MLD)...
  28. doi Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles
    Serena Grossi
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Genova, Italy
    Hum Mutat 29:E220-30. 2008
    b>Metachromatic leukodystrophy (MLD), the demyelinating disorder resulting from impaired sulfatide catabolism, is caused by allelic mutations of the Arylsulfatase A (ARSA) locus except for extremely rare cases of Saposin-B (Sap-B) ..
  29. ncbi AAV1 mediated co-expression of formylglycine-generating enzyme and arylsulfatase a efficiently corrects sulfatide storage in a mouse model of metachromatic leukodystrophy
    Toshiyuki Kurai
    Department of Biochemistry and Molecular Biology, Nippon Medical School, Bunkyo ku, Tokyo, Japan
    Mol Ther 15:38-43. 2007
    b>Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by a deficiency of arylsulfatase A (ASA) and is characterized by deposition of sulfatide in all organs, particularly the nervous system...
  30. pmc Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient
    A L Fluharty
    Mental Retardation Research Center, University of California School of Medicine, Los Angeles
    Am J Hum Genet 49:1340-50. 1991
    Fragments of the arylsulfatase A (ARSA) gene from a patient with juvenile-onset metachromatic leukodystrophy (MLD) were amplified by PCR and ligated into MP13 cloning vectors...
  31. ncbi Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome
    W Krivit
    University of Minnesota and Institute of Human Genetics, Minneapolis 55455, USA
    Curr Opin Hematol 6:377-82. 1999
    ..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...
  32. pmc Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area
    U Heinisch
    Institut für Biochemie II, Universitat Gottingen, Germany
    Am J Hum Genet 56:51-7. 1995
    b>Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. The disease occurs panethnically, with an estimated frequency of 1/40,000...
  33. doi Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots
    Mohd A F Tan
    Clin Chem 54:1925-7. 2008
  34. ncbi Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)
    O N Koc
    Division of Hematology Oncology, Department of Medicine at Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106, USA
    Bone Marrow Transplant 30:215-22. 2002
    Patients with Hurler syndrome (mucopolysaccharidosis type-IH) and metachromatic leukodystrophy (MLD) develop significant skeletal and neurologic defects that limit their survival...
  35. ncbi Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype
    H Rauschka
    Center for Brain Research, Medical University of Vienna, Department of Neurology, Hospital Lainz, Austria
    Neurology 67:859-63. 2006
    P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity.
  36. ncbi Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum
    Peter Poeppel
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhelms Universitat Bonn, Germany
    FEBS J 272:1179-88. 2005
    b>Metachromatic leukodystrophy is a lysosomal storage disorder caused by a deficiency of arylsulfatase A (ASA)...
  37. doi Molecular bases of metachromatic leukodystrophy in Polish patients
    Agnieszka Lugowska
    Department of Genetics, Institute of Psychiatry and Neurology, Al Sobieskiego 9, Warsaw, Poland
    J Hum Genet 55:394-6. 2010
    Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p...
  38. pmc Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiency
    M A Rafi
    Department of Medicine, Jefferson Medical College, Philadelphia, PA
    Am J Hum Genet 50:1252-8. 1992
    ..Recently, patients have been identified who have a variant form of metachromatic leukodystrophy which is characterized by mutations in the gene coding for SAP-1, which is also called "prosaposin...
  39. ncbi Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy
    Sabata Martino
    Dipartimento di Scienze Biochimiche e Biotecnologie Molecolari, University of Perugia, Via del Giochetto, Italy
    J Biotechnol 117:243-51. 2005
    ..production of active Arylsulfatase A is a key step in the development of enzyme replacement therapy for Metachromatic Leukodystrophy. To obtain large amounts of purified Arylsulfatase A for therapeutic use, we combined a retroviral ..
  40. doi Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation
    A Biffi
    San Raffaele Telethon Institute for Gene Therapy Paediatric Clinical Research Unit, San Raffaele Scientiffic Institute, Milan, Italy
    Clin Genet 74:349-57. 2008
    b>Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder resulting from the inherited deficiency of the arylsulfatase A (ARSA) enzyme. Currently, no valid therapeutic options are available for affected patients...
  41. pmc Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy
    M Henseler
    Institut fur Organische Chemie und Biochemie, Universitat Bonn, Germany
    Am J Hum Genet 58:65-74. 1996
    ..Its recessively inherited deficiency results in a metabolic disorder similar to classical metachromatic leukodystrophy, which is caused by a defect of arylsulfatase A. Here we report on a patient with sap-B deficiency...
  42. doi Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options
    Volkmar Gieselmann
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhems Universität Bonn, Bonn, Germany
    Acta Paediatr Suppl 97:15-21. 2008
    b>Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of arylsulphatase A (ASA). This leads to storage of the membrane lipid sulphatide, which is abundant in myelin...
  43. ncbi Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency
    D A Wenger
    Department of Medicine, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107
    Am J Med Genet 33:255-65. 1989
    ..SAP-1) rabbit antiserum, and no cross-reacting material was detected confirming the diagnosis of metachromatic leukodystrophy caused by SAP-1 deficiency...
  44. ncbi Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
    Stefano Regis
    Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genova, Italy
    Hum Genet 110:351-5. 2002
    ..We identified a late infantile metachromatic leukodystrophy patient carrying on one allele the new E253K mutation and the known T391S polymorphism, and on the ..
  45. ncbi Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy
    Ulrich Matzner
    Institut Für Physiologische Chemi, Rheinische Friedrich Wilhelms Universitat, Nussallee 11, 53115 Bonn, Germany
    Hum Mol Genet 14:1139-52. 2005
    A deficiency of arylsulfatase A (ASA) causes the lysosomal storage disease metachromatic leukodystrophy, which is characterized by accumulation of the sphingolipid 3-O-sulfogalactosylceramide (sulfatide)...
  46. ncbi Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
    N Fujita
    Brain and Development Research Center, University of North Carolina School of Medicine, Chapel Hill 27599, USA
    Hum Mol Genet 5:711-25. 1996
    ..This model not only allows further clarification of the physiological functions of the four individual sphingolipid activator proteins but also should be useful to explore putative functions of the precursor protein...
  47. ncbi Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency
    Nicolas Deconinck
    Department of Neurology, Hopital Universitaire des Enfants Reine Fabiola, Universite Libre de Bruxelles, Av J J Crocq 15, 1020 Brussels, Belgium
    Eur J Paediatr Neurol 12:46-50. 2008
    b>Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative lysosomal disease characterized by accumulation of sulfatides, extensive white matter damage and loss of both cognitive and motor functions...
  48. ncbi Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry
    P D Whitfield
    Lysosomal Diseases Research Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia
    Mol Genet Metab 73:30-7. 2001
    b>Metachromatic leukodystrophy is an inherited disorder characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neural and visceral tissues...
  49. ncbi Metachromatic leukodystrophy: molecular genetics and an animal model
    V Gieselmann
    Biochemisches Institut der Christian Albrechts Universität zu Kiel, Germany
    J Inherit Metab Dis 21:564-74. 1998
    b>Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulphatase A (ASA; EC 3.1.6.8). Deficiency of this enzyme causes intralysosomal storage of the sphingolipid cerebroside sulphate...
  50. ncbi Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland
    A Ługowska
    Institute of Psychiatry and Neurology, Department of Genetics, Warsaw, Poland
    Clin Genet 68:48-54. 2005
    ..A (ARSA) gene were studied in 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD). Screening for mutations p.R84Q, p.S96F, c.459+1G>A, p.I179S, p.A212V, c.1204+1G>A, p...
  51. ncbi Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy
    Antonio C M Maia
    AJNR Am J Neuroradiol 28:999. 2007
  52. doi Multipotential neural precursors transplanted into the metachromatic leukodystrophy brain fail to generate oligodendrocytes but contribute to limit brain dysfunction
    M I Givogri
    Department of Anatomy and Cell Biology, College of Medicine, University of Illinois at Chicago, Chicago, IL, USA
    Dev Neurosci 30:340-57. 2008
    ..the effects of high levels of potentially toxic substances such as sulfatides--which accumulate in metachromatic leukodystrophy (MLD)--on this regenerative ability are still largely unclear...
  53. ncbi A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)
    D Wrobe
    Kekule Institut fur Organische Chemie und Biochemie, Universitat Bonn, Germany
    J Inherit Metab Dis 23:63-76. 2000
    ..the lysosomal accumulation of sulphatides and other sphingolipids, resulting in variant forms of metachromatic leukodystrophy (MLD)...
  54. pmc Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy
    Ulrich Matzner
    Institut für Physiologische Chemie and LIMES, Membrane Biology and Lipid Biochemistry Unit, c o Kekulé Institut für Organische Chemie und Biochemie, Rheinische Friedrich Wilhelms University, 53115 Bonn, Germany
    J Biol Chem 284:9372-81. 2009
    ..progressive intralysosomal accumulation of sulfatide, and the fatal lysosomal storage disease metachromatic leukodystrophy. We studied the coupled Sap B-ASA reaction in vitro using detergent-free micellar and liposomal assay ..
  55. ncbi Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy
    Hariharasubramanian Ramakrishnan
    Institute of Physiological Chemistry, Rheinische Friedrich Wilhelms University of Bonn, 53115 Bonn, Germany
    J Neurosci 27:9482-90. 2007
    b>Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ASA)...
  56. pmc Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations
    Ladislav Kuchar
    Charles University in Prague, 1st Medical Faculty, Institute of Inherited Metabolic Disorders of 1st Faculty of Medicine and General Teaching Hospital, Prague, Czech Republic
    Am J Med Genet A 149:613-21. 2009
    ..a severe neurovisceral dystrophy and died as a neonate, and the other with SapB-d, who presented with a metachromatic leukodystrophy-like disorder but had normal arylsulfatase activity...
  57. pmc Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency
    X L Zhang
    Department of Medicine, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107
    Proc Natl Acad Sci U S A 87:1426-30. 1990
    ..While most patients with metachromatic leukodystrophy have mutations in the gene for arylsulfatase A, some patients have deficient SAP-1, as determined by ..
  58. ncbi Metachromatic leukodystrophy: consequences of sulphatide accumulation
    V Gieselmann
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhelms Universitat, Bonn, Germany
    Acta Paediatr Suppl 92:74-9; discussion 45. 2003
    b>Metachromatic leukodystrophy is a lysosomal lipid storage disorder. It is caused by mutations in the gene for arylsulphatase A, an enzyme involved in the degradation of the sphingolipid 3'-O-sulphogalactosylceramide (sulphatide)...
  59. ncbi Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy
    Matthias Eckhardt
    Institute of Physiological Chemistry, University of Bonn, 53115 Bonn, Germany
    J Neurosci 27:9009-21. 2007
    b>Metachromatic leukodystrophy is a lysosomal storage disorder caused by deficiency in the sulfolipid degrading enzyme arylsulfatase A (ASA)...
  60. pmc Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy
    Ulrich Matzner
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhelms Universitat, Bonn, Germany
    Mol Ther 17:600-6. 2009
    ..To assess the efficacy of long-term ERT in metachromatic leukodystrophy (MLD), an LSD with prevailing nervous system disease, we treated immunotolerant arylsulfatase A (ASA) ..
  61. ncbi Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological study
    W Schlote
    Neurologisches Institut der Universität Edinger Institut, Frankfurt am Main, Federal Republic of Germany
    Eur J Pediatr 150:584-91. 1991
    ..Our results indicate that rectal biopsy morphology and lipid loading biochemistry should prove useful for the screening of SAP defects...
  62. ncbi Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy
    R D'hooge
    Laboratory of Neurochemistry and Behaviour, Born Bunge Foundation, and Department of Neurology Memory Clinic, University of Antwerp, Antwerp, Belgium
    Brain Res 907:35-43. 2001
    Deficiency of arylsulfatase A (ASA) causes the autosomal recessive lipidosis, metachromatic leukodystrophy (MLD)...
  63. ncbi Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice
    R D'hooge
    Laboratory of Neurochemistry and Behaviour, Born Bunge Foundation, and Memory Clinic, Neurology Department, Middelheim Hospital, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium
    Brain Res 847:352-6. 1999
    ..A (ASA)-deficient mice constitute an animal model for the inherited lysosomal storage disease, metachromatic leukodystrophy (MLD)...
  64. ncbi Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype
    J S Harvey
    Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, 5006, Australia
    Hum Mol Genet 7:1215-9. 1998
    b>Metachromatic leukodystrophy (MLD) is an inborn error of myelin metabolism caused by a deficiency of the lysosomal hydrolase, arylsulfatase A (ASA)...
  65. ncbi Morphological alterations in the inner ear of the arylsulfatase A-deficient mouse
    R Coenen
    Department of Anatomy, University of Kiel, Germany
    Acta Neuropathol 101:491-8. 2001
    b>Metachromatic leukodystrophy of humans is an inherited sulfatide lipidosis due to deficiency of arylsulfatase A (ASA). As an animal model, ASA(-/-) mice have been generated...
  66. ncbi Sulfatide storage in visceral organs of arylsulfatase A-deficient mice
    I Schott
    Department of Anatomy, University of Kiel, Germany
    Virchows Arch 439:90-6. 2001
    ..of sulfatides in visceral organs and in the nervous system and leads to wide-spread demyelination (metachromatic leukodystrophy, MLD). ASA-deficient mice have previously been generated by means of targeted gene disruption...
  67. ncbi Lysosomal sulfoglycolipid storage in the kidneys of mice deficient for arylsulfatase A (ASA) and of double-knockout mice deficient for ASA and galactosylceramide synthase
    R Lullmann-Rauch
    Department of Anatomy, University of Kiel, Olshausenstrasse 40, 24098 Kiel, Germany
    Histochem Cell Biol 116:161-9. 2001
    ..lysosomal accumulation of sulfoglycolipids (mainly sulfo-galactosylceramide, S-GalCer ) and leads to metachromatic leukodystrophy in humans. Among visceral organs, kidneys are particularly affected...
  68. pmc Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy
    B Hess
    Institut für Biochemie II, Georg August Universitat Gottingen, Federal Republic of Germany
    Proc Natl Acad Sci U S A 93:14821-6. 1996
    b>Metachromatic leukodystrophy is a lysosomal sphingolipid storage disorder caused by the deficiency of arylsulfatase A. The disease is characterized by progressive demyelination, causing various neurologic symptoms...
  69. doi Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease
    Ulrich Matzner
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhelms Universitat, Nussallee 11, D 53115 Bonn, Germany
    J Mol Med (Berl) 86:433-42. 2008
    ..We reported previously that treatment of a knockout mouse model of the sphingolipid storage disease metachromatic leukodystrophy (MLD) by intravenous injection of recombinant human arylsulfatase A (rhASA) reduces sulfatide storage ..
  70. doi Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy
    Stijn Stroobants
    Laboratory of Biological Psychology, Department of Psychology, University of Leuven, Leuven, Belgium
    Behav Brain Res 189:306-16. 2008
    Arylsulfatase A (ASA)-deficient mice represent an animal model for the lysosomal storage disorder metachromatic leukodystrophy (MLD)...
  71. ncbi Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients
    Linda Berna
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic
    Am J Med Genet A 129:277-81. 2004
    b>Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency of arylsulphatase A (ASA)...
  72. ncbi Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy
    Caroline Sevin
    Institut National de la Santé et de la Recherche Médicale U561, Universite Paris V, 75014 Paris, France
    Hum Mol Genet 15:53-64. 2006
    b>Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal disease caused by a defect of the enzyme arylsulfatase A (ARSA) that disrupts the degradation of sulfatides (Sulf) in neurons and glial cells...
  73. ncbi A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy
    Karumbayaram Saravanan
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhelms Universitat, Nussallee 11, 53115 Bonn, Germany
    J Neurosci Methods 161:223-33. 2007
    The arylsulfatase A (ASA)-deficient mouse is a murine model of human metachromatic leukodystrophy (MLD) caused by a genetic defect in the ASA gene...
  74. ncbi Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up
    Maria Görg
    Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    J Child Neurol 22:1139-42. 2007
    A 29-year-old female patient with juvenile metachromatic leukodystrophy diagnosed at age 14 years received a bone marrow transplant at age 16 years...
  75. ncbi Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer
    C Sevin
    Institut National de la Santé et de la Recherche Médicale Inserm U745, Laboratory of Molecular Genetics and Université ParisV, Paris, France
    Gene Ther 14:405-14. 2007
    b>Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by genetic deficiency of arylsulfatase A (ARSA) enzyme...
  76. ncbi Axons mediate the distribution of arylsulfatase A within the mouse hippocampus upon gene delivery
    Tonia Luca
    Telethon Institute for Gene Therapy, San Raffaele Scientific Institute, Milan, Italy
    Mol Ther 12:669-79. 2005
    ..an additional mechanism of enzyme distribution after in vivo brain gene transfer in an animal model of metachromatic leukodystrophy (MLD)...
  77. ncbi Juvenile metachromatic leukodystrophy
    K De Prest
    Department of Radiology, UZ Gent, Gent, Belgium
    JBR-BTR 90:182-3. 2007
  78. ncbi Sperm surface arylsulfatase A can disperse the cumulus matrix of cumulus oocyte complexes
    Alexander Wu
    Hormones Growth Development Research Group, Ottawa Health Research Institute, Ottawa, Ontario, Canada
    J Cell Physiol 213:201-11. 2007
    ....
  79. pmc Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene
    S Franken
    Department of Physiological Chemistry, University of Bonn, Germany
    Lipids Health Dis 5:21. 2006
    Arylsulfatase A (ASA)-deficient mice are a model for the lysosomal storage disorder metachromatic leukodystrophy. This lipidosis is characterised by the lysosomal accumulation of the sphingolipid sulfatide...
  80. ncbi Reduced brain cholesterol content in arylsulfatase A-deficient mice
    Dieter Lutjohann
    Institute of Clinical Pharmacology, University of Bonn, Germany
    Biochem Biophys Res Commun 344:647-50. 2006
    b>Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by deficiency in arylsulfatase A (ASA)...
  81. ncbi Sulfatide with short fatty acid dominates in astrocytes and neurons
    Giorgis Isaac
    Department of Analytical Chemistry, Uppsala University, Sweden
    FEBS J 273:1782-90. 2006
    ..the molecular species of sulfatide in cultured astrocytes and a mouse model of the human disease metachromatic leukodystrophy. In these arylsulfatase A (ASA)-deficient mice sulfatide accumulates intracellularly in neurons and ..
  82. ncbi Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations
    Banu Anlar
    Hacettepe University Faculty of Medicine, Department of Paediatric Neurology, Ankara, Turkey
    Dev Med Child Neurol 48:383-7. 2006
    A male and female with juvenile metachromatic leukodystrophy (MLD) with unusual manifestations are presented, each involving a novel arylsulfatase A gene mutation...
  83. pmc Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy
    Ulrich Matzner
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhelms Universitat, Nussallee 11, D 5315 Bonn, Germany
    Mol Med 13:471-9. 2007
    A deficiency of arylsulfatase A (ASA) causes metachromatic leukodystrophy (MLD), a lysosomal storage disorder characterized by accumulation of sulfatide, a severe neurological phenotype and early death...
  84. ncbi Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type
    Agnieszka Ługowska
    Institute of Psychiatry and Neurology, Department of Genetics, Al Sobieskiego 9, 02 957 Warsaw, Poland
    J Appl Genet 46:337-9. 2005
    The metachromatic leukodystrophy (MLD)--causing mutation c.1204 + 1G > A damages an intron-exon splice site recognition sequence. This results in a complete loss of enzymatic activity of arylsulfatase A (ARSA) protein molecules...
  85. ncbi Synthetic sulfogalactosylceramide (sulfatide) and its use for the mass spectrometric quantitative urinary determination in metachromatic leukodystrophies
    Yanli Cui
    Departement de Chimie, Ecole Normale Superieure, UMR 8642, CNRS ENS UPMC, 24 rue Lhomond, 75231 Paris Cedex 05, France
    Glycoconj J 25:147-55. 2008
    3-O-Sulfogalactosylceramides (sulfatides) accumulate in the genetic disease metachromatic leukodystrophy which is due to a defect in the catabolic enzyme, arylsulfatase A...
  86. ncbi Coexpression of formylglycine-generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy
    Yukiko Takakusaki
    Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan
    Hum Gene Ther 16:929-36. 2005
    b>Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder involving inherited deficiency of arylsulfatase A (ASA)...
  87. ncbi Metachromatic leukodystrophy: recent research developments
    Volkmar Gieselmann
    Institute of Physiological Chemistry, Rheinische Friedrich Wilhelms Universitat Bonn, Bonn, Germany
    J Child Neurol 18:591-4. 2003
    b>Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A, causing the storage of the sphingolipid sulfatide...
  88. ncbi Nine-year-old girl presenting familial occurrence of progressive developmental abnormalities with the white matter lesions
    Masaharu Hayashi
    Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Tokyo, Japan
    Neuropathology 22:350-2. 2002
  89. pmc Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages
    Nicole Muschol
    Children s Hospital, University of Hamburg, Martinistr 52, D 20246 Hamburg, Germany
    Biochem J 368:845-53. 2002
    ..The data suggest that other mechanisms than the proposed M6P-dependent secretion/recapture of lysosomal enzymes might be responsible for therapeutic effects of bone marrow transplantation in the brain...
  90. ncbi Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy
    Anna Tylki-Szymanska
    Memorial Institute Child Health Centre, Department of Metabolic Diseases, Warsaw, Poland
    Am J Med Genet 110:315-9. 2002
    ..expressed as micro-organic brain damage (MOBD) was investigated in 27 unrelated heterozygotes with metachromatic leukodystrophy (MLD)...
  91. ncbi Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Can J Neurol Sci 29:159-63. 2002
    b>Metachromatic leukodystrophy (MLD) is a genetic neurodegenerative disorder resulting from a deficiency of arylsulfatase A. Late onset forms are relatively rare. Central nervous system (CNS) involvement is characteristic at all ages.
  92. ncbi Arylsulfatase-A in umbilical cord blood: gestational age and mode of delivery do not influence enzyme activity
    G D Georgeson
    Mullikin Medical Centers, Artesia, CA, USA
    Bone Marrow Transplant 29:487-90. 2002
    ..Therefore, umbilical cord blood samples seem to be suitable for transplantation in metachromatic leukodystrophy, regardless of gestational age and mode of delivery...
  93. ncbi Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy
    Natalia V Olkhovich
    Department of Medical Genetics, Kyiv Medical Academy of Postdiploma Education, Kyiv, Ukraine
    Mol Genet Metab 80:360-3. 2003
    b>Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA) or saposin B. The majority of mutations identified in patients with MLD are unique within individual families...
  94. ncbi [Lysosomal diseases [metachromatic leukodystrophy (adult), Krabbe's disease (adult)]]
    Masaru Kuriyama
    Second Department of Internal Medicine, Fukui Medical University
    Nihon Rinsho 62:393-8. 2004
  95. ncbi Structure of the mouse arylsulfatase A gene and cDNA
    J Kreysing
    Department of Biochemistry II, Georg August Universitat Gottingen, Federal Republic of Germany
    Genomics 19:249-56. 1994
    ..The coding sequence has 1518 nucleotides and predicts a protein of 506 amino acids. The nucleotide as well as the amino acid sequence is highly conserved among humans and mice...
  96. pmc Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene
    S Gallo
    Istituto BIRD Europe, Vicenza, Italy
    J Neurol Neurosurg Psychiatry 75:655-7. 2004
    b>Metachromatic leukodystrophy (MLD) rarely has its clinical onset in young adults, with a combination of cognitive and behavioural symptoms and peripheral neuropathy...
  97. ncbi Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells
    U Matzner
    Institut fur Physiologische Chemie, Rheinische Friedrich Wilhelms Universitat, Nussallee 11, 53115 Bonn, Germany
    Gene Ther 7:805-12. 2000
    A deficiency of arylsulfatase A (ASA) causes the lysosomal storage disease metachromatic leukodystrophy (MLD) which is characterized primarily by demyelination of the central nervous system...
  98. ncbi Adult-onset MLD: a gene mutation with isolated polyneuropathy
    K J Felice
    Department of Neurology, University of Connecticut School of Medicine, Farmington 06035 1840, USA
    Neurology 55:1036-9. 2000
    ..Results of studies of CNS integrity, including cranial MRI, evoked potentials, and neuropsychologic tests, were normal. Molecular genetic analyses revealed a novel homozygous missense mutation (Thr286Pro) in the ASA gene...
  99. pmc High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy
    J Kreysing
    Department of Biochemistry II, Georg August Universitat, Gottingen, Germany
    Am J Hum Genet 53:339-46. 1993
    We identified a patient suffering from late-infantile metachromatic leukodystrophy (MLD) who has a residual arylsulfatase A (ARSA) activity of about 10%...
  100. ncbi Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder
    K Saravanan
    Institute of Physiological Chemistry, Rheinische Friedrich Wilhelms Universitat, Bonn, Germany
    Neurobiol Dis 16:396-406. 2004
    b>Metachromatic leukodystrophy (MLD) is a lysosomal lipid storage disease caused by arylsulfatase A deficiency. In MLD patients the sphingolipid sulfatide increasingly accumulates leading to progressive demyelination...
  101. ncbi Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy
    Afshin Yaghootfam
    Institute of Physiological Chemistry, Rheinische Friedrich Wilhelms Universitat, Nussallee 11, 53115 Bonn, Germany
    Neurochem Res 29:933-42. 2004
    b>Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. This leads to the accumulation of 3-O-sulfogalactosylceramide, which results in severe demyelination...

Research Grants68

  1. CHEMICAL PATHOLOGY OF NEUROLOGICAL DISORDERS
    Kunihiko Suzuki; Fiscal Year: 1993
    ..neurological disorders, -- GM1-gangliosidosis/ Morquio B disease (acid beta-galactosidase deficiency), metachromatic leukodystrophy-like and Gaucher-like syndromes-(SAP-1 and SAP-2 deficiencies respectively), and a unique pleomorphic ..
  2. CHEMICAL PATHOLOGY OF NEUROLOGICAL DISORDERS
    Kunihiko Suzuki; Fiscal Year: 1999
    ..neurological disorders, -- GM1-gangliosidosis/ Morquio B disease (acid beta-galactosidase deficiency), metachromatic leukodystrophy-like and Gaucher-like syndromes-(SAP-1 and SAP-2 deficiencies respectively), and a unique pleomorphic ..
  3. MULTIPLEX ANALYSIS OF INBORN ERRORS OF METABOLISM
    FRANTISEK contact TURECEK; Fiscal Year: 2010
    ..The proposed research aims at the detection of syndromes of Hunter, Maroteaux-Lamy, Morquio A, Metachromatic Leukodystrophy, and Sanfilippo A-D using dried blood spots on newborn screening cards...
  4. MULTIPLEX ANALYSIS OF INBORN ERRORS OF METABOLISM
    Frantisek Turecek; Fiscal Year: 2007
    ..LSD) belonging to the Mucopolysaccharidosis groups II (MPS-II, Hunter), MPSVI (Maroteaux-Lamy), and metachromatic leukodystrophy, using dried blood spots on newborn screening cards as the enzyme source...
  5. MULTIPLEX ANALYSIS OF INBORN ERRORS OF METABOLISM
    Frantisek Turecek; Fiscal Year: 2007
    ..LSD) belonging to the Mucopolysaccharidosis groups II (MPS-II, Hunter), MPS- VI (Maroteaux-Lamy), and metachromatic leukodystrophy, using dried blood spots on newborn screening cards as the enzyme source...
  6. Imaging the Pathophysiology of AMN in Mice and Humans
    Florian Eichler; Fiscal Year: 2007
    ..Ultimately, insights gained in these studies of ALD/AMN may prove beneficial to other neurodegenerative diseases, such as amyotrophic lateral sclerosis or Parkinson's and Alzheimer's diseases. ..
  7. MODULATION OF PRB2/P130 MEDIATED GROWTH SUPPRESSION
    Antonio Giordano; Fiscal Year: 2002
    ..To understand the regulatory function of pRb2/p130 phosphorylation, c. To define the role of the Rb2/p130 gene in human lung cancer development and progression, d. To prepare viral models for studying pRB2/p130 in vivo. ..
  8. Interaction between HIV-1 and cell cycle proteins
    Antonio Giordano; Fiscal Year: 2003
    ..In particular, we will focus our attention on the cell cycle regulatory proteins, pRb2/pl30, Cdk9 and cycT1, which seem to be involved in AIDS-related tumorigenesis. ..
  9. CNS DEFECT IN A MURINE ZELLWEGER SYNDROME MODEL
    Phyllis Faust; Fiscal Year: 2002
    ....
  10. CNS defects in a murine Zellweger syndrome model
    Phyllis Faust; Fiscal Year: 2007
    ....
  11. Functional Language Organization in Childhood Stroke
    ANNA BYARS; Fiscal Year: 2006
    ..The findings will contribute to the understanding of brain plasticity, language development, and assessment and treatment of language disorders. ..