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1. Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis?/ Reply
by Letterio S Politi and Ettore Salsano and Alessandra Biffi and Chujun Wu and Dongsheng Fan
JAMA Neurology, ISSN 2168-6149, 08/2018, Volume 75, Issue 8, p. 1027
Leukodystrophy
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2. Childhood leukodystrophies: A clinical perspective
by Kohlschütter, Alfried and Eichler, Florian
Expert Review of Neurotherapeutics, ISSN 1473-7175, 10/2011, Volume 11, Issue 10, pp. 1485 - 1496
Leukodystrophies are white matter disorders that are genetic in nature. In the young, they represent an important cause of progressive neurological disability.... 
metabolic genetic disease | degenerative brain disease | brain white matter | children | MRI | METACHROMATIC LEUKODYSTROPHY | BRAIN-STEM | FOLLOW-UP | X-LINKED ADRENOLEUKODYSTROPHY | CLINICAL NEUROLOGY | TRANSPLANTATION | PHARMACOLOGY & PHARMACY | UMBILICAL-CORD BLOOD | MEGALENCEPHALIC LEUKOENCEPHALOPATHY | KRABBE-DISEASE | Neurodegenerative Diseases - pathology | Leukodystrophy, Globoid Cell - diagnosis | Leukodystrophy, Metachromatic - physiopathology | Humans | Leukodystrophy, Globoid Cell - pathology | Neurodegenerative Diseases - diagnosis | Infant | Leukodystrophy, Metachromatic - therapy | Neurodegenerative Diseases - therapy | Leukodystrophy, Globoid Cell - physiopathology | Magnetic Resonance Imaging | Leukodystrophy, Metachromatic - diagnosis | Neurodegenerative Diseases - physiopathology | Nerve Fibers, Myelinated - pathology | Leukodystrophy, Globoid Cell - therapy | Child | Leukodystrophy, Metachromatic - pathology | Infant, Newborn
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3. Leucodystrophies and poliodystropies
by Vinken, P.J and Bruyn, G.W
1970, Handbook of clinical neurology, Volume 10, 687
Leukodystrophy, Metachromatic
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4. Leukodystrophies
by Raymond, Gerald V
2011, International review of child neurology series, ISBN 1907655417
Metachromatic leukodystrophy
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5. Full Text Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State
by Wasserstein, Melissa P and Andriola, Mary and Arnold, Georgianne and Aron, Alan and Duffner, Patricia and Erbe, Richard W and Escolar, Maria L and Estrella, Lissette and Galvin-Parton, Patricia and Iglesias, Alejandro and Kay, Denise M and Kronn, David F and Kurtzberg, Joanne and Kwon, Jennifer M and Langan, Thomas J and Levy, Paul A and Naidich, Thomas P and Orsini, Joseph J and Pellegrino, Joan E and Provenzale, James M and Wenger, David A and Caggana, Michele and New York State Krabbe Consortium and and the New York State Krabbe Consortium
Genetics in Medicine, ISSN 1098-3600, 12/2016, Volume 18, Issue 12, pp. 1235 - 1243
Background: Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after... 
newborn screening | Krabbe disease | Globoid cell leukodystrophy | GENETICS & HEREDITY | globoid cell leukodystrophy | EXPERIENCE | GLOBOID-CELL LEUKODYSTROPHY | ONSET | REGISTRY | BLOOD | New York | Leukodystrophy, Globoid Cell - diagnosis | Humans | Risk Factors | Infant | Neonatal Screening | Mass Screening | Hematopoietic Stem Cell Transplantation - adverse effects | Female | Leukodystrophy, Globoid Cell - genetics | Leukodystrophy, Globoid Cell - mortality | Leukodystrophy, Globoid Cell - therapy | Infant, Newborn
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6. Full Text History, genetic, and recent advances on Krabbe disease
by Graziano, Adriana Carol Eleonora and Cardile, Venera
Gene, ISSN 0378-1119, 01/2015, Volume 555, Issue 1, pp. 2 - 13
Krabbe disease or globoid cell leukodystrophy is one of the classic genetic lysosomal storage diseases with autosomal recessive inheritance that affects both... 
β-Galactocerebrosidase | Sphingolipid | Lysosomal storage disease | Myelin | Globoid cell leukodystrophy | TWITCHER MOUSE | PROTEIN-KINASE-C | WEST HIGHLAND WHITE | BONE-MARROW-TRANSPLANTATION | CENTRAL NERVOUS-SYSTEM | GALACTOCEREBROSIDASE GALC CDNA | LYSOSOMAL STORAGE DISEASES | beta-Galactocerebrosidase | PSYCHOSINE-INDUCED APOPTOSIS | GENETICS & HEREDITY | PRENATAL ENZYMATIC DIAGNOSIS | GLOBOID-CELL LEUKODYSTROPHY | Animals | History, 20th Century | Humans | Leukodystrophy, Globoid Cell - history | History, 19th Century | Leukodystrophy, Globoid Cell - genetics | Leukodystrophy, Globoid Cell - therapy | Leukodystrophy, Globoid Cell - physiopathology
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7. Full Text Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients
by Müller vom Hagen, J and Karle, K. N and Schüle, R and Krägeloh‐Mann, I and Schöls, L
European Journal of Neurology, ISSN 1351-5101, 07/2014, Volume 21, Issue 7, pp. 983 - 988
Background and purpose In chronic progressive spasticity of the legs many rare causes have to be considered, including leukodystrophies due to neurometabolic... 
phenotype | leukodystrophy | spasticity | neurometabolic disease | frequency | Spasticity | Frequency | Phenotype | Leukodystrophy | Neurometabolic disease | INHERITED LEUKODYSTROPHIES | PARAPLEGIA | ATAXIA | X-LINKED ADRENOLEUKODYSTROPHY | LYSOSOMAL STORAGE DISORDERS | NEUROSCIENCES | CLINICAL NEUROLOGY | DISEASE | ONSET | Leukodystrophy, Globoid Cell - diagnosis | Leukodystrophy, Metachromatic - blood | Humans | Middle Aged | Paraparesis, Spastic - etiology | Male | Leukodystrophy, Metachromatic - complications | Magnetic Resonance Imaging | Leukodystrophy, Metachromatic - diagnosis | Adrenoleukodystrophy - diagnosis | Leukodystrophy, Globoid Cell - complications | Adrenoleukodystrophy - blood | Age of Onset | Hereditary Central Nervous System Demyelinating Diseases - diagnosis | Adult | Female | Leukodystrophy, Globoid Cell - blood | Aged | Adrenoleukodystrophy - complications | Hereditary Central Nervous System Demyelinating Diseases - complications | Hereditary Central Nervous System Demyelinating Diseases - blood | Enzymes | Skin diseases | Genetic aspects | Fatty acids | Drug therapy | Genotype & phenotype | Patients
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8. Full Text Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy
by Ricca, Alessana and Rufo, Nicole and Ungari, Silvia and Morena, Francesco and Martino, Sabata and Kulik, Wilem and Alberizzi, Valeria and Bolino, Alessana and Bianchi, Francesca and del Carro, Ubaldo and Biffi, Alessana and Gritti, Angela
Human molecular genetics, ISSN 0964-6906, 2015, Volume 24, Issue 12, pp. 3372 - 3389
Globoid cell leukodystrophy (GLD) is a lysosomal storage disease caused by deficient activity of β-galactocerebrosidase (GALC). The infantile forms manifest... 
NEURAL STEM-CELLS | NEURONAL METABOLIC INTERACTIONS | TWITCHER MICE | GALACTOCEREBROSIDASE ENZYME CONTRIBUTES | BONE-MARROW-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | METACHROMATIC LEUKODYSTROPHY | CENTRAL-NERVOUS-SYSTEM | GENE-THERAPY | KRABBE-DISEASE | Genetic Therapy | Central Nervous System - metabolism | Leukodystrophy, Globoid Cell - diagnosis | Humans | Apoptosis - genetics | Neural Stem Cells - cytology | Myelin Sheath - metabolism | Brain - metabolism | Gliosis - pathology | Stem Cell Transplantation | Galactosylceramidase - genetics | Leukodystrophy, Globoid Cell - metabolism | Bone Marrow Transplantation | Cell Differentiation | Leukodystrophy, Globoid Cell - mortality | Leukodystrophy, Globoid Cell - therapy | Disease Models, Animal | Gliosis - genetics | Gliosis - metabolism | Peripheral Nervous System - physiopathology | Axons - metabolism | Graft Survival | Mice, Transgenic | Cell- and Tissue-Based Therapy | Mice, Knockout | Animals | Axons - pathology | Peripheral Nervous System - metabolism | Leukodystrophy, Globoid Cell - genetics | Mice | Central Nervous System - physiopathology | Enzyme Activation | Neural Stem Cells - metabolism | Galactosylceramidase - metabolism
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9. Full Text Gene therapy for leukodystrophies
by Biffi, Alessandra and Aubourg, Patrick and Cartier, Nathalie
Human Molecular Genetics, ISSN 0964-6906, 04/2011, Volume 20, Issue R1, pp. R42 - R53
Leukodystrophies (LDs) refer to a group on inherited diseases in which molecular abnormalities of glial cells are responsible for exclusive or predominant... 
MULTIPLE SULFATASE DEFICIENCY | INTEGRATION SITE SELECTION | HUMAN METACHROMATIC LEUKODYSTROPHY | BONE-MARROW-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | A-DEFICIENT MICE | ADENOASSOCIATED VIRUS VECTOR | CENTRAL-NERVOUS-SYSTEM | X-LINKED ADRENOLEUKODYSTROPHY | GLOBOID-CELL LEUKODYSTROPHY | NEURONAL CEROID-LIPOFUSCINOSIS | Humans | Hematopoietic Stem Cell Transplantation | Leukodystrophy, Metachromatic - therapy | Neurodegenerative Diseases - genetics | Neurodegenerative Diseases - therapy | Hematopoietic Stem Cells - metabolism | Genetic Vectors - genetics | Leukodystrophy, Metachromatic - genetics | Adrenoleukodystrophy - therapy | Hematopoietic Stem Cells - cytology | Leukodystrophy, Globoid Cell - genetics | Adrenoleukodystrophy - genetics | Leukodystrophy, Globoid Cell - therapy | Genetic Therapy - methods
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10. Full Text Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): A single entity?
by Wider, C and Van Gerpen, J.A and Dearmond, S and Shuster, E.A and Dickson, D.W and Wszolek, Z.K
Neurology, ISSN 0028-3878, 06/2009, Volume 72, Issue 22, pp. 1953 - 1959
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD) present as adult-onset... 
AUTOSOMAL-DOMINANT LEUKODYSTROPHY | LEUCODYSTROPHY | HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY | DEMENTIA | AXONAL SPHEROIDS | NEUROAXONAL SPHEROIDS | ADULT-ONSET LEUKODYSTROPHY | ORTHOCHROMATIC LEUKODYSTROPHY | GLIA | CLINICAL NEUROLOGY | SUDANOPHILIC LEUKODYSTROPHY | Dementia - pathology | Dementia, Vascular - physiopathology | Wallerian Degeneration - pathology | Macrophages - pathology | Leukodystrophy, Metachromatic - physiopathology | Neuroglia - pathology | Humans | Wallerian Degeneration - physiopathology | Dementia - physiopathology | Disease Progression | Axons - pathology | Age of Onset | Dementia, Vascular - pathology | Leukodystrophy, Metachromatic - pathology | Views & Reviews
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11. Full Text Leukodystrophies with late disease onset: An update
by Köhler, Wolfgang
Current Opinion in Neurology, ISSN 1350-7540, 06/2010, Volume 23, Issue 3, pp. 234 - 241
Purpose of review Knowledge of the metabolic and genetic basis of known and previously unknown leukodystrophies is constantly increasing, opening new treatment... 
Inborn error of metabolism | Gene therapy | Leukodystrophy | Enzyme replacement | Hematopoietic stem cell transplantation | ABCD2 | METACHROMATIC LEUKODYSTROPHY | gene therapy | SPINAL-CORD | leukodystrophy | inborn error of metabolism | X-LINKED ADRENOLEUKODYSTROPHY | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | KRABBE DISEASE | IN-VITRO | MOUSE MODEL | hematopoietic stem cell transplantation | ALEXANDER-DISEASE | enzyme replacement | GENE-THERAPY | Central Nervous System - metabolism | Adrenoleukodystrophy - physiopathology | Humans | Central Nervous System - pathology | Hereditary Central Nervous System Demyelinating Diseases - physiopathology | Leukodystrophy, Globoid Cell - physiopathology | Leukodystrophy, Metachromatic - metabolism | Nerve Fibers, Myelinated - pathology | Leukodystrophy, Globoid Cell - metabolism | Brain Diseases, Metabolic, Inborn - genetics | Energy Metabolism - genetics | Hereditary Central Nervous System Demyelinating Diseases - genetics | Nerve Fibers, Myelinated - metabolism | Brain Diseases, Metabolic, Inborn - metabolism | Leukodystrophy, Metachromatic - physiopathology | Lipid Metabolism Disorders - metabolism | Hereditary Central Nervous System Demyelinating Diseases - metabolism | Adrenoleukodystrophy - metabolism | Leukodystrophy, Metachromatic - genetics | Animals | Lipid Metabolism Disorders - genetics | Age of Onset | Leukodystrophy, Globoid Cell - genetics | Adrenoleukodystrophy - genetics | Central Nervous System - physiopathology | Index Medicus
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12. Full Text Neuronal inclusions of α‐synuclein contribute to the pathogenesis of Krabbe disease
by Smith, Benjamin R and Santos, Marta B and Marshall, Michael S and Cantuti‐Castelvetri, Ludovico and Lopez‐Rosas, Aurora and Li, Guannan and van Breemen, Richard and Claycomb, Kumiko I and Gallea, Jose I and Celej, Maria S and Crocker, Stephen J and Givogri, Maria I and Bongarzone, Ernesto R
The Journal of Pathology, ISSN 0022-3417, 04/2014, Volume 232, Issue 5, pp. 509 - 521
Demyelination is a major contributor to the general decay of neural functions in children with Krabbe disease. However, recent reports have indicated a... 
myelin | psychosine | Krabbe disease | axonal degeneration | dying‐back pathology | α‐synuclein | synucleinopathies | ubiquitin | Lewy bodies | dying-back pathology | α-synuclein | FIBRIL FORMATION | TWITCHER MOUSE | LEWY BODY DISEASE | FATTY-ACIDS | PATHOLOGY | alpha-synuclein | MULTIPLE SYSTEM ATROPHY | IN-VITRO | ONCOLOGY | PERIPHERAL NEUROPATHY | TRANSGENIC MOUSE MODEL | GLOBOID-CELL LEUKODYSTROPHY | PARKINSONS-DISEASE | Lewy Bodies - ultrastructure | Humans | Cognition | Leukodystrophy, Globoid Cell - psychology | Motor Activity | Leukodystrophy, Globoid Cell - physiopathology | Case-Control Studies | Brain - metabolism | Neurons - ultrastructure | Leukodystrophy, Globoid Cell - metabolism | Brain - ultrastructure | Thiazoles | Neurons - metabolism | alpha-Synuclein - genetics | Lewy Bodies - metabolism | Disease Models, Animal | Brain - physiopathology | Psychosine - metabolism | Leukodystrophy, Globoid Cell - pathology | Animals | Leukodystrophy, Globoid Cell - genetics | Mice | Mutation | alpha-Synuclein - metabolism | Fluorescent Dyes | Index Medicus
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13. Full Text A practical approach to diagnosing adult onset leukodystrophies
by Ahmed, R M and Murphy, E and Davagnanam, I and Parton, M and Schott, J M and Mummery, C J and Rohrer, J D and Lachmann, R H and Houlden, H and Fox, N C and Chataway, J
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2014, Volume 85, Issue 7, pp. 770 - 781
SURGERY | CEREBROTENDINOUS-XANTHOMATOSIS | MRI | PSYCHIATRY | METACHROMATIC LEUKODYSTROPHY | PHENOTYPE | CLINICAL NEUROLOGY | PATHOGENESIS | LEUKOENCEPHALOPATHY | MULTIPLE-SCLEROSIS | ALEXANDER-DISEASE | BRAIN BIOPSY | KRABBE-DISEASE | Neuroimaging | Diagnosis, Differential | CADASIL - pathology | Leukodystrophy, Globoid Cell - diagnosis | Humans | Middle Aged | Leukodystrophy, Globoid Cell - pathology | Adrenoleukodystrophy - pathology | Magnetic Resonance Imaging | Hereditary Central Nervous System Demyelinating Diseases - pathology | Leukodystrophy, Metachromatic - diagnosis | Xanthomatosis, Cerebrotendinous - pathology | Adrenoleukodystrophy - diagnosis | Biopsy | Xanthomatosis, Cerebrotendinous - diagnosis | Age of Onset | Brain - pathology | CADASIL - diagnosis | Hereditary Central Nervous System Demyelinating Diseases - diagnosis | Adult | Leukodystrophy, Metachromatic - pathology
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14. Full Text Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's Disease
by Escolar, Maria L and Poe, Michele D and Provenzale, James M and Richards, Karen C and Allison, June and Wood, Susan and Wenger, David A and Pietryga, Daniel and Wall, Donna and Champagne, Martin and Morse, Richard and Krivit, William and Kurtzberg, Joanne
The New England Journal of Medicine, ISSN 0028-4793, 05/2005, Volume 352, Issue 20, pp. 2069 - 2081
Asymptomatic newborns in whom infantile Krabbe's disease was diagnosed at or before birth and who underwent transplantation of umbilical-cord blood had... 
TWITCHER MOUSE | MEDICINE, GENERAL & INTERNAL | BONE-MARROW TRANSPLANTATION | STORAGE DISEASES | UNRELATED DONORS | CENTRAL-NERVOUS-SYSTEM | RECIPIENTS | RECONSTITUTION | GLOBOID-CELL LEUKODYSTROPHY | PLACENTAL-BLOOD | Brain - anatomy & histology | Growth | Humans | Evoked Potentials | Infant | Male | Electroencephalography | Leukodystrophy, Globoid Cell - physiopathology | Female | Child Development | Leukodystrophy, Globoid Cell - mortality | Leukodystrophy, Globoid Cell - therapy | Motor Skills | Motor Skills Disorders - etiology | Histocompatibility Testing | Fetal Blood - transplantation | Graft Survival | Infant Behavior | Neural Conduction | Treatment Outcome | Disease Progression | Infant, Newborn - growth & development | Cord Blood Stem Cell Transplantation | Survival Analysis | Galactosylceramidase - cerebrospinal fluid | Transplantation Conditioning | Longitudinal Studies | Galactosylceramidase - metabolism | Infants (Newborn) | Fetal blood | Transplantation | Diagnosis | Research | Health aspects | Globoid cell leukodystrophy | Babies | Comparative studies | Transplants & implants | Neurological disorders | Blood | Clinical outcomes
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