Language and cognition in children with metachromatic leukodystrophy: Onset and natural course in a nationwide cohort

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Kehrer, Christiane ^a   Groeschel, Samuel ^a   Kustermann Kuhn, Birgit ^a   Bürger, Friederike ^b   Köhler, Wolfgang ^c   Kohlschütter, Alfried ^d   Bley, Annette ^d   Steinfeld, Robert ^e   Gieselmann, Volkmar ^f   Krägeloh Mann, Ingeborg ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c Fachkrankenhaus Hubertusburg   (Germany)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^f UNIVERSITY OF BONN   (Germany)

Author keywords

Decline of language and cognition; Metachromatic leukodystrophy; Natural course; Onset and first symptoms; Reference data

Indexed keywords

CHILD, PRESCHOOL; COGNITION; FEMALE; HUMANS; INFANT; LANGUAGE; LEUKODYSTROPHY, METACHROMATIC; MALE;

EID: 84893166091     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-18     Document Type: Article

References (21)

1. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Gieselmann V, Acta Paediatr Suppl 2008 97 15 21 10.1111/j.1651-2227. 2008.00648.x 18339182 (Pubitemid 351421291)
2. Metachromatic leukodystrophy. von Figura K, Gieselmann V, Jaeken J, The Metabolic And Molecular Bases Of Inherited Disease. Chapter 148 New York: McGraw-Hill, Scriver CR, Beaudet AL, Sly WS, Valle D, 2001 3695 3724
3. Metachromatic leukodystrophy-an update. Gieselmann V, Krägeloh-Mann I, Neuropediatrics 2010 41 1 6 10.1055/s-0030-1253412 20571983
4. Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy. Martin HR, Poe MD, Provenzale JM, Kurtzberg J, Mendizabal A, Escolar ML, Biol Blood Marrow Transplant 2013 19 616 624 10.1016/j.bbmt.2013.01.010 23348427
5. Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy. van Egmond ME, Pouwels PJ, Boelens JJ, Lindemans CA, Barkhof F, Steenwijk MD, van Hasselt PM, van der Knaap MS, Wolf NI, JAMA Neurol 2013 70 779 782 10.1001/jamaneurol.2013.629 23608771
6. Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort. Krägeloh-Mann I, Groeschel S, Kehrer C, Opherk K, Nägele T, Handgretinger R, Müller I, Bone Marrow Transplant 2013 48 369 375 10.1038/bmt.2012.155 22941383
7. Gene therapy for leukodystrophies. Biffi A, Aubourg P, Cartier N, Hum Mol Genet 2011 20 42 53 10.1093/hmg/ddr142 21459776
8. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L, Science 2013 341 1233158 10.1126/science. 1233158 23845948
9. Developing treatment options for metachromatic leukodystrophy. Batzios SP, Zafeiriou DI, Mol Genet Metab 2012 105 56 63 10.1016/j.ymgme.2011.10.002 22078456
10. Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy. Kehrer C, Blumenstock G, Raabe C, Krägeloh-Mann I, Dev Med Child Neurol 2011 53 156 160 10.1111/j.1469-8749.2010.03821.x 21087233
11. The natural course of gross motor deterioration in metachromatic leukodystrophy. Kehrer C, Blumenstock G, Gieselmann V, Krägeloh-Mann I, German L, Dev Med Child Neurol 2011 53 850 855 10.1111/j.1469-8749.2011.04028.x 21707604
12. Sulfatide lipidosis: metachromatic leukodystrophy. Moser H, Lees M, The metabolic basis of inherited disease New York: McGraw-Hill, Stanbury JB, Wyngaarden JB, Fredrickson DS, 1965 539 559
13. Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course. Groeschel S, Kehrer C, Engel C, Dali CI, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I, J Inherit Metab Dis 2011 34 1095 1102 10.1007/s10545-011-9361-1 21698385
14. Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Groeschel S, Dali CI, Clas P, Böhringer J, Duno M, Krarup C, Kehrer C, Wilke M, Krägeloh-Mann I, Neurology 2012 79 1662 1670 10.1212/WNL.0b013e31826e9ad2 22993277
15. Language development of term and preterm children during the first five years of life. Largo RH, Molinari L, Comenale Pinto L, Weber M, Duc G, Dev Med Child Neurol 1986 28 333 350 3721077 (Pubitemid 16099580)
16. Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy. Artigalás O, Lagranha VL, Saraiva-Pereira ML, Burin MG, Lourenço CM, van der Linden H Jr, Santos ML, Rosemberg S, Steiner CE, Kok F, de Souza CF, Jardim LB, Giugliani R, Schwartz IV, J Inherit Metab Dis 2010 33 Suppl 3 257 62 20596894
17. Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. Görg M, Wilck W, Granitzny B, Suerken A, Lukacs Z, Ding X, Schulte-Markwort M, Kohlschütter A, J Child Neurol 2007 22 1139 1142 10.1177/0883073807306256 17890417 (Pubitemid 47412692)
18. Characteristics of the dementia in late-onset metachromatic leukodystrophy. Shapiro EG, Lockman LA, Knopman D, Krivit W, Neurology 1994 44 662 665 10.1212/WNL.44.4.662 8164821 (Pubitemid 24129993)
19. Clinical symptoms, signs and tests in metachromatic leucodystrophy. Hagberg B, Brain Lipids And Lipoproteins, And The Leucodystrophies Amsterdam-London-New York: Elsevier, Folch-Pi J, Bauer H, 1963 134 146
20. Lyon G, Kolodny EH, Pastores GM, Neurology Of Hereditary Metabolic Diseases Of Children New York-Chicago-San Francisco: McGraw-Hill 3 2006
21. Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy. Clarke JT, Skomorowski MA, Chang PL, Am J Med Genet 1989 33 10 13 10.1002/ajmg.1320330104 2568751 (Pubitemid 19171113)