Case definition and classification of leukodystrophies and leukoencephalopathies

Molecular Genetics and Metabolism

Volumn 114, Issue 4, 2015, Pages 494-500

  Vanderver, Adeline ^a,b   Prust, Morgan ^a   Tonduti, Davide ^c,d   Mochel, Fanny ^e   Hussey, Heather M ^f   Helman, Guy ^a   Garbern, James ^g   Eichler, Florian ^h   Labauge, Pierre ⁱ   Aubourg, Patrick ^j   Rodriguez, Diana ^k   Patterson, Marc C ^l   Van Hove, Johan L K ^m   Schmidt, Johanna ^a   Wolf, Nicole I ⁿ   Boespflug Tanguy, Odile ^o,p   Schiffmann, Raphael ^q   van der Knaap, Marjo S ⁿ  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^c UNIVERSITY OF PAVIA   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e SORBONNE UNIVERSITÉ   (France)

^f GEORGE WASHINGTON UNIVERSITY   (United States)

^g UNIVERSITY OF ROCHESTER   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ MONTPELLIER UNIVERSITY HOSPITAL   (France)

^j BICÊTRE HOSPITAL   (France)

^k ARMAND TROUSSEAU HOSPITAL   (France)

^l MAYO CLINIC   (United States)

^m Children's Hospital Colorado   (United States)

ⁿ VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^o HÔPITAL ROBERT DEBRÉ   (France)

^p INSERM   (France)

^q BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

Genetic leukoencephalopathy; Glia; Leukodystrophy; Myelin

Indexed keywords

MONOCARBOXYLATE TRANSPORTER 8; MYELIN; N ACETYLASPARTIC ACID; PHOSPHOGLYCERATE DEHYDROGENASE;

ADRENOLEUKODYSTROPHY; ALEXANDER DISEASE; ASTROCYTE; BRAIN CORTEX; CADASIL; CANAVAN DISEASE; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; CONSENSUS; DELPHI STUDY; DISEASE CLASSIFICATION; GLIA CELL; GM1 GANGLIOSIDOSIS; GM2 GANGLIOSIDOSIS; GRAY MATTER; HUMAN; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; MAPLE SYRUP URINE DISEASE; MULTIPLE SCLEROSIS; MYELIN SHEATH; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODENDROGLIA; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; REVIEW; WHITE MATTER; BRAIN DISEASE; CLASSIFICATION; DEMYELINATING DISEASE; GENETICS; GLIA; LYSOSOME STORAGE DISEASE; PHYSIOLOGY;

BRAIN DISEASES; DEMYELINATING DISEASES; HUMANS; LEUKOENCEPHALOPATHIES; LYSOSOMAL STORAGE DISEASES; MYELIN SHEATH; NEUROGLIA;

EID: 84926245563     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.01.006     Document Type: Review

References (13)

1. Bonkowsky J.L., Nelson C., Kingston J.L., Filloux F.M., Mundorff M.B., Srivastava R. The burden of inherited leukodystrophies in children. Neurol 2010, 75:718-725.
2. Brown A.D., Goldacre M.J., Hicks N., Rourke J.T., McMurtry R.Y., Brown J.D., Anderson G.M. Hospitalization for ambulatory care-sensitive conditions: a method for comparative access and quality studies using routinely collected statistics. Can. J. Public Health 2001, 92:155-159.
3. Basson R., Berman J., Burnett A., Derogatis L., Ferguson D., Fourcroy J., Goldstein I., Graziottin A., Heiman J., Laan E., Leiblum S., Padma-Nathan H., Rosen R., Segraves K., Segraves R.T., Shabsigh R., Sipski M., Wagner G., Whipple B. Report of the international consensus development conference on female sexual dysfunction: definitions and classifications. J. Urol. 2000, 163:888-893.
4. van der Knaap M.S., Valk J. Magnetic Resonance of Myelination and Myelin Disorders 2005, Springer-Verlag, Berlin.
5. Swaiman K.F., Ashwal S., Ferriero D.M. Pediatric neurology: principles & practice 2006, Mosby, Philadelphia.
6. Wolf N.I., van der Knaap M.S. AGC1 deficiency and cerebral hypomyelination. N. Engl. J. Med. 2009, 361:1997-1998. (author reply 1998).
7. van der Knaap M.S., Wolf N.I. Hypomyelination versus delayed myelination. Ann. Neurol. 2010, 68:115.
8. van Heteren J.T., Rozenberg F., Aronica E., Troost D., Lebon P., Kuijpers T.W. Astrocytes produce interferon-alpha and CXCL10, but not IL-6 or CXCL8, in Aicardi-Goutières syndrome. Glia 2008, 56:568-578.
9. Akwa Y., Hassett D.E., Eloranta M.L., Sandberg K., Masliah E., Powell H., Whitton J.L., Bloom F.E., Campbell I.L. Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J. Immunol. 1998, 161:5016-5026.
10. Schiffmann R., van der Knaap M.S. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009, 72:750-759.
11. Ito H., Mori K., Kagami S. Neuroimaging of stroke-like episodes in MELAS. Brain Dev. 2011, 33:283-288.
12. Ferrari G., Lamantea E., Donati A., Filosto M., Briem E., Carrara F., Parini R., Simonati A., Santer R., Zeviani M. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005, 128:723-731.
13. Steenweg M.E., Ghezzi D., Haack T., Abbink T.E., Martinelli D., van Berkel C.G., Bley A., Diogo L., Grillo E., Te Water Naude J., Strom T.M., Bertini E., Prokisch H., van der Knaap M.S., Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 2012, 135:1387-1394.