Leukodystrophies

GUIDELINES, CONSENSUS PAPERS

GLIA consortium
  • Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; Case definition and classification of leukodystrophies and leukoencephalopathies. GLIA Consortium Molecular Genetics and Metabolism 2015, 114: 494–500
  • Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):501-15. Review
  • Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Fatemi SA, Leonardk J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A. Disease specific therapies in leukodystrophies and leukoencephalopathies. on behalf of the GLIA Consortium Molecular Genetics and Metabolism 2015, 114: 527–536
  • Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC . Consensus statement on preventive and symptomatic care of leukodystrophy patients. on behalf of the GLIA Consortium. Molecular Genetics and Metabolism 2015, 114(4):516-26
Others
  • van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. 2017, Acta Neuropathologica epub
  • Gordon HB, Letsou A, Bonkowsky JL. The leukodystrophies. Seminare in Neurology 2014, 34:312-320.
  • Pouwels PJW, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SCL, Bertini E, Kohlschuetter A, Richardson W, ffrench-Constant C, Koehler W, Rowitch D, Barkovich AJ. Hypomyelinating Leukodystrophies: Translational Research Progress and Prospects. Ann Neurol 2014; 76:5–19
  • Kohlschuetter A, Eichler F. Childhood leukodystrophies: a clinical perspective. www.expert.reviews.com 2011
  • Yoshida T, Sasaki M, Yoshida M, Namekawa M, Okamoto Y, Tsujino S, Sasayama H, Mizuta I, Nakagawa M. Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. The Alexander Disease Study Group in Japan. J Neurol 2011, 258:1998–2008
German guidelines
  • Schöls L, Krägeloh-Mann I, Köhler W, Rolfs A. Leukodystrophien im Erwachsenenalter, Leitlinien in der Neurologie 80, 16.07.2012

DIAGNOSTIC ALGORITHMS

  • Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GMS, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010: 133; 2971–2982
  • Schiffmann R, van der Knaap M. An MRI-based approach to the diagnosis of white matter disorders. Neurology 2009; 72:750–759
  • Schöls L, Krägeloh-Mann I, Köhler W, Rolfs A. Leukodystrophien im Erwachsenenalter, Leitlinien in der Neurologie 80, 16.07.2012

EVIDENCE STUDIES

Natural History
  • Zuccoli G, Narayanan S, Panigrahy A, Poe MD, Escolar ML. Midbrain morphology reflects extent of brain damage in Krabbe disease. Neuroradiology 2015, 57:739–745
  • Abdelhalim AN, Alberico RA, Barczykowksi AL, Duffner PK. Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients with Krabbe Disease Correspond to Phenotype, Pediatric Neurology: 2014, 50:127-134
  • Hoshino H, Kubota M. Canavan disease: Clinical features and recent advances in research. Pediatrics International 2014, 56: 477–483
  • Kehrer C, Groeschel S, Kustermann-Kuhn B, Bürger F, Köhler W, Kohlschütter A, Bley A, Steinfeld R, Gieselmann V, Krägeloh-Mann I. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. Orphanet Journal of Rare Diseases 2014, 9:18
  • Wolf NI, Vanderver A, van Spaendonk RML, et al. Clinical spectrum of 4H leuko-dystrophy caused by POLR3A and POLR3B mutations. Neurology® 2014; 83:1–8
  • Groeschel S, i Dali C, Clas P, et al. Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology 2012; 79:1662-1670
  • van der Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol 2012; 11: 973–85
  • Steenweg ME, Ghezzi D, Haack T, Abbink TEM, Martinelli D, van Berkel CGM, Bley A, Diogo L, Grillo E, Te Water Naude J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involve-ment and high lactate ‘LTBL’ caused by EARS2 mutations. Brain 2012: 135; 1387–1394
  • Groeschel S, Kehrer C, Engel C, i Dali C, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I. Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course. J Inherit Metab Dis 2011, 34(5):1095-102
  • Kehrer C, Blumenstock G, Gieselmann V, Krägeloh-Mann I. The natural course of gross motor deterioration in metachromatic leukodystrophy. DMCM, 2011, 850-855
  • Freeman SH, Hyman BT, Sims KB, Hedley-Whyte T, Vossough A, Frosch MP, Schmahmann JD. Adult onset leukodystrophy with neuroaxonal spheroids: Clinical, neuroimaging and neuropathologic observations. Brain Pathol. 2009; 19(1): 39–47
  • Labauge P, Horzinski L, Ayrignac X, Blanc P, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Seze J, Fogli A, Boespflug-Tanguy O. Natural history of adult-onset eIF2B-related dis-orders: a multi-centric survey of 16 cases. Brain 2009: 132; 2161–2169
  • Poll-The PT, Gärtner J. Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. Biochimica et Biophysica Acta 2012, 1822: 1421–1429
  • Duffner PK, Jalal K, Carter RL. The Hunter’s Hope Krabbe Family Database. Pediatric Neurology 2009, 40(1):13-8
  • Sawaishi Y. Review of Alexander disease: Beyond the classical concept of leuko-dystrophy. Brain & Development 2009, 31: 493–498.
  • Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CWT, IJlst L, Moser AB, Wanders RJA, Waterham HR. Clinical, Biochemical, and Mutational Spectrum of Peroxisomal Acyl–Coenzyme A Oxidase Deficiency. HUMAN MUTATION 2007, 28(9):904-912
  • Scheper GC, van der Klok T, van Andel RJ, van Berkel CGM, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Kraegeloh-Mann I, Smeitink JAM, Florentz C, Van Coster R, Pronk JC, van der KnaapMS. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nature Genetics, April 2007: Vol 39, No 4
  • Husain AM, Altuwaijri M, Aldosari M. Krabbe disease: Neurophysiologic studies and MRI correlations. NEUROLOGY 2004; 63:617–620
  • van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Kraegeloh-Mann I, Feigenbaum A, Blaser S, Vles JSH, Rieckmann P, Pouwels PJW. A New Leuko-encephalopathy with Brainstem and Spinal Cord Involvement and High Lactate. Ann Neurol 2003; 53:252–258
Therapy
  • Eichler F, Duncan C, Musolino PL, Orchard P, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA. Hematopoietic stem cell therapy for cerebral adrenoleukodystrophy. NEJM 2017, 377:17
  • Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K. Clinical Management of Krabbe Disease. Journal of Neuroscience Research 2016, 94:1118–1125
  • Groeschel S, Kühl JS, Bley AE, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I. Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients. JAMA Neurology, 2016, 73(9):1133-40
  • Sessa M, Lorioli L, Fumagalli F, et al. Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-rando-mised, open-label, phase 1/2 trial. Lancet 2016; 388: 476–87
  • Boucher A, Miller W, Shanley R, Ziegler R, Lund T, Raymond G, Orchard PJ. Long-term outcomes after allogeneic hematopoietic stem cell transplantation for meta-chromatic leukodystrophy: the largest single-institution cohort report. Orphanet Journal of Rare Diseases 2015, 10:94
  • Miranda CO, Brites P, Sousa MM, Teixeira CA. Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies. Cell Transplantation, 2013, 22: 189–204,
  • Miller WP, Rothman SM, Nascene D, Kivisto T, DeFor TE, Ziegler RS, Eisengart J, Leiser K, Raymond C, Lund TC, Tolar J, Orchard PJ. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. BLOOD, 2011, 18 August 2011, Vol 118, No 7
  • Cartier N, et al. Hematopoietic Stem Cell Gene Therapy with Lentiviral Vector in X-Linked Adrenoleukodystrophy. Science 2009, 326, 818
  • Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis 2007, 30:175–183
  • Loes DJ, Peters C, Krivit W. Globoid Cell Leukodystrophy: Distinguishing Early-Onset from Late-Onset Disease Using a Brain MR Imaging Scoring Method. AJNR 1999, 20:316–323.
  • Rehabilitation: no specific evidence
  • Speech and communication:. no specific evidence

REGISTRIES

Metachromatic leukodystrophy
  • Leukonet
Leukodystrophies
  • Leukotreat

SCALES

  • Clas P, Groeschel S, Wilke M. A Semi-Automatic Algorithm for Determining the Demyelination Load in Metachromatic Leukodystrophy. Acad Radiol 2012; 19:26–34
  • Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 2012, 79(7): 566-574
  • Kehrer C, Blumenstock G, Raabe C, Kraegeloh-Mann I. Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy. Developmental Medicine & Child Neurology 2011, 53: 156–160
  • Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschuetter A, Loes DJ, Kraegeloh-Mann I. Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations. AJNR Am J Neuroradiol 2009, 30:1893–97
  • Escolar ML, Poe MD, Martin HR, Kurtzberg J. A Staging System for Infantile Krabbe Disease to Predict Outcome After Unrelated Umbilical Cord Blood Transplantation. PEDIATRICS 2006, 118(3):e879-89
  • Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschuetter A. Late Infantile Neuronal Ceroid Lipofuscinosis: Quantitative Description of the Clinical Course in Patients With CLN2 Mutations. American Journal of Medical Genetics 2002, 112:347–354
  • Loes DJ, Peters C, Krivit W. Globoid Cell Leukodystrophy: Distinguishing Early-Onset from Late-Onset Disease Using a Brain MR Imaging Scoring Method. AJNR 1999, 20:316–323

NETWORKS AND STUDY GROUPS

Textversion ausgeblendet

LEUKODYSTROPHIES RESOURCES

Guidelines, consensus papers

GLIA consortium:
  • Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; Case definition and classification of leukodystrophies and leukoencephalopathies. GLIA Consortium Molecular Genetics and Metabolism 2015, 114: 494–500
  • Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):501-15. Review
  • Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Fatemi SA, Leonardk J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A. Disease specific therapies in leukodystrophies and leukoencephalopathies. on behalf of the GLIA Consortium Molecular Genetics and Metabolism 2015, 114: 527–536
  • Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC . Consensus statement on preventive and symptomatic care of leukodystrophy patients. on behalf of the GLIA Consortium. Molecular Genetics and Metabolism 2015, 114(4):516-26
others
  • van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. 2017, Acta Neuropathologica epub
  • Gordon HB, Letsou A, Bonkowsky JL. The leukodystrophies. Seminare in Neurology 2014, 34:312-320.
  • Pouwels PJW, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SCL, Bertini E, Kohlschuetter A, Richardson W, ffrench-Constant C, Koehler W, Rowitch D, Barkovich AJ. Hypomyelinating Leukodystrophies: Translational Research Progress and Prospects. Ann Neurol 2014; 76:5–19
  • Kohlschuetter A, Eichler F. Childhood leukodystrophies: a clinical perspective. www.expert.reviews.com 2011
  • Yoshida T, Sasaki M, Yoshida M, Namekawa M, Okamoto Y, Tsujino S, Sasayama H, Mizuta I, Nakagawa M. Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. The Alexander Disease Study Group in Japan. J Neurol 2011, 258:1998–2008
German guidelines:
  • Schöls L, Krägeloh-Mann I, Köhler W, Rolfs A. Leukodystrophien im Erwachsenenalter, Leitlinien in der Neurologie 80, 16.07.2012

Diagnostic algorithms

  • Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GMS, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010: 133; 2971–2982
  • Schiffmann R, van der Knaap M. An MRI-based approach to the diagnosis of white matter disorders. Neurology 2009; 72:750–759
  • Schöls L, Krägeloh-Mann I, Köhler W, Rolfs A. Leukodystrophien im Erwachsenenalter, Leitlinien in der Neurologie 80, 16.07.2012

Evidence studies - Natural history

  • Zuccoli G, Narayanan S, Panigrahy A, Poe MD, Escolar ML. Midbrain morphology reflects extent of brain damage in Krabbe disease. Neuroradiology 2015, 57:739–745
  • Abdelhalim AN, Alberico RA, Barczykowksi AL, Duffner PK. Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients with Krabbe Disease Correspond to Phenotype, Pediatric Neurology: 2014, 50:127-134
  • Hoshino H, Kubota M. Canavan disease: Clinical features and recent advances in research. Pediatrics International 2014, 56: 477–483
  • Kehrer C, Groeschel S, Kustermann-Kuhn B, Bürger F, Köhler W, Kohlschütter A, Bley A, Steinfeld R, Gieselmann V, Krägeloh-Mann I. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. Orphanet Journal of Rare Diseases 2014, 9:18
  • Wolf NI, Vanderver A, van Spaendonk RML, et al. Clinical spectrum of 4H leuko-dystrophy caused by POLR3A and POLR3B mutations. Neurology® 2014; 83:1–8
  • Groeschel S, i Dali C, Clas P, et al. Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology 2012; 79:1662-1670
  • van der Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol 2012; 11: 973–85
  • Steenweg ME, Ghezzi D, Haack T, Abbink TEM, Martinelli D, van Berkel CGM, Bley A, Diogo L, Grillo E, Te Water Naude J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involve-ment and high lactate ‘LTBL’ caused by EARS2 mutations. Brain 2012: 135; 1387–1394
  • Groeschel S, Kehrer C, Engel C, i Dali C, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I. Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course. J Inherit Metab Dis 2011, 34(5):1095-102
  • Kehrer C, Blumenstock G, Gieselmann V, Krägeloh-Mann I. The natural course of gross motor deterioration in metachromatic leukodystrophy. DMCM, 2011, 850-855
  • Freeman SH, Hyman BT, Sims KB, Hedley-Whyte T, Vossough A, Frosch MP, Schmahmann JD. Adult onset leukodystrophy with neuroaxonal spheroids: Clinical, neuroimaging and neuropathologic observations. Brain Pathol. 2009; 19(1): 39–47
  • Labauge P, Horzinski L, Ayrignac X, Blanc P, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Seze J, Fogli A, Boespflug-Tanguy O. Natural history of adult-onset eIF2B-related dis-orders: a multi-centric survey of 16 cases. Brain 2009: 132; 2161–2169
  • Poll-The PT, Gärtner J. Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. Biochimica et Biophysica Acta 2012, 1822: 1421–1429
  • Duffner PK, Jalal K, Carter RL. The Hunter’s Hope Krabbe Family Database. Pediatric Neurology 2009, 40(1):13-8
  • Sawaishi Y. Review of Alexander disease: Beyond the classical concept of leuko-dystrophy. Brain & Development 2009, 31: 493–498.
  • Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CWT, IJlst L, Moser AB, Wanders RJA, Waterham HR. Clinical, Biochemical, and Mutational Spectrum of Peroxisomal Acyl–Coenzyme A Oxidase Deficiency. HUMAN MUTATION 2007, 28(9):904-912
  • Scheper GC, van der Klok T, van Andel RJ, van Berkel CGM, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Kraegeloh-Mann I, Smeitink JAM, Florentz C, Van Coster R, Pronk JC, van der KnaapMS. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nature Genetics, April 2007: Vol 39, No 4
  • Husain AM, Altuwaijri M, Aldosari M. Krabbe disease: Neurophysiologic studies and MRI correlations. NEUROLOGY 2004; 63:617–620
  • van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Kraegeloh-Mann I, Feigenbaum A, Blaser S, Vles JSH, Rieckmann P, Pouwels PJW. A New Leuko-encephalopathy with Brainstem and Spinal Cord Involvement and High Lactate. Ann Neurol 2003; 53:252–258

Evidence studies – Therapy

  • Eichler F, Duncan C, Musolino PL, Orchard P, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA. Hematopoietic stem cell therapy for cerebral adrenoleukodystrophy. NEJM 2017, 377:17
  • Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K. Clinical Management of Krabbe Disease. Journal of Neuroscience Research 2016, 94:1118–1125
  • Groeschel S, Kühl JS, Bley AE, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I. Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients. JAMA Neurology, 2016, 73(9):1133-40
  • Sessa M, Lorioli L, Fumagalli F, et al. Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-rando-mised, open-label, phase 1/2 trial. Lancet 2016; 388: 476–87
  • Boucher A, Miller W, Shanley R, Ziegler R, Lund T, Raymond G, Orchard PJ. Long-term outcomes after allogeneic hematopoietic stem cell transplantation for meta-chromatic leukodystrophy: the largest single-institution cohort report. Orphanet Journal of Rare Diseases 2015, 10:94
  • Miranda CO, Brites P, Sousa MM, Teixeira CA. Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies. Cell Transplantation, 2013, 22: 189–204,
  • Miller WP, Rothman SM, Nascene D, Kivisto T, DeFor TE, Ziegler RS, Eisengart J, Leiser K, Raymond C, Lund TC, Tolar J, Orchard PJ. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. BLOOD, 2011, 18 August 2011, Vol 118, No 7
  • Cartier N, et al. Hematopoietic Stem Cell Gene Therapy with Lentiviral Vector in X-Linked Adrenoleukodystrophy. Science 2009, 326, 818
  • Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis 2007, 30:175–183
  • Loes DJ, Peters C, Krivit W. Globoid Cell Leukodystrophy: Distinguishing Early-Onset from Late-Onset Disease Using a Brain MR Imaging Scoring Method. AJNR 1999, 20:316–323.
  • Rehabilitation: no specific evidence
  • Speech and communication:. no specific evidence

Registries

Metachromatic leukodystrophy
  • Leukonet
Leukodystophies
  • Leukotreat

Scales

  • Clas P, Groeschel S, Wilke M. A Semi-Automatic Algorithm for Determining the Demyelination Load in Metachromatic Leukodystrophy. Acad Radiol 2012; 19:26–34
  • Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 2012, 79(7): 566-574
  • Kehrer C, Blumenstock G, Raabe C, Kraegeloh-Mann I. Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy. Developmental Medicine & Child Neurology 2011, 53: 156–160
  • Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschuetter A, Loes DJ, Kraegeloh-Mann I. Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations. AJNR Am J Neuroradiol 2009, 30:1893–97
  • Escolar ML, Poe MD, Martin HR, Kurtzberg J. A Staging System for Infantile Krabbe Disease to Predict Outcome After Unrelated Umbilical Cord Blood Transplantation. PEDIATRICS 2006, 118(3):e879-89
  • Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschuetter A. Late Infantile Neuronal Ceroid Lipofuscinosis: Quantitative Description of the Clinical Course in Patients With CLN2 Mutations. American Journal of Medical Genetics 2002, 112:347–354
  • Loes DJ, Peters C, Krivit W. Globoid Cell Leukodystrophy: Distinguishing Early-Onset from Late-Onset Disease Using a Brain MR Imaging Scoring Method. AJNR 1999, 20:316–323

Networks and study groups

  • Leukonet consortium
  • Leukotreat consortium

Advocacy and support groups

  • ELA European leukodystrophy association www.elaev.de