1H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms

Neuroradiology

Volumn 55, Issue 8, 2013, Pages 933-939

  Finnsson, J ^a,b   Melberg, A ^a   Raininko, R ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Brain; Hereditary central nervous system demyelinating diseases; Leukoencephalopathies; Magnetic resonance spectroscopy

Indexed keywords

CHOLINE; CREATINE; GLUTAMIC ACID; GLUTAMINE; MYELIN; N ACETYLASPARTIC ACID; WATER;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT LEUKODYSTROPHY; BRAIN LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; IMAGE ANALYSIS; LEUKODYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; ONSET AGE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SIGNAL PROCESSING; TOTAL BODY WATER; WHEELCHAIR; WHITE MATTER;

ADULT; AGED; ASPARTIC ACID; AUTONOMIC NERVOUS SYSTEM DISEASES; BIOLOGICAL MARKERS; BRAIN; CHOLINE; CREATINE; FEMALE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; PELIZAEUS-MERZBACHER DISEASE; PROTONS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84880790483     PISSN: 00283940     EISSN: 14321920     Source Type: Journal    
DOI: 10.1007/s00234-013-1174-5     Document Type: Article

References (27)

1. Online Mendelian Inheritance in Man, OMIM (TM) (2011) McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine. http://www.ncbi.nlm. nih.gov/omim/
2. Melberg A, Hallberg L, Kalimo H, Raininko R (2006) MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 27:904-911
3. Eldridge R, Anayiotos CP, Schlesinger S, Cowen D, Bever C, Patronas N, McFarland H (1984) Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. N Engl J Med 311:948-953
4. Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu Y-H (2006) Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 38:1114-1123
5. Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C et al (2009) A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. J Neurol Neurosurg Psychiatry 80:237-240
6. Dos Santos MM, Grond-Ginsbach C, Aksay SS, Chen B, Tchatchou S, Wolf NI, van der Knaap MS, Grau AJ (2011) Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. J Neurol 259:579-581
7. Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C et al (2012) Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov Disord 27:442-446
8. Meijer IA, Simoes-Lopes AA, Laurent S, Katz T, St-Onge J, Verlaan DJ, Dupré N, Thibault M, Mathurin J, Bouchard JP, Rouleau GA (2008) A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. Arch Neurol 65:1496-1501
9. Schuster J, Sundblom J, Thuresson A-C, Hassin-Baer S, Klopstock T, Dichgans M, Cohen OS, Raininko R, Melberg A, Dahl N (2011) Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics 12:65-72
10. Lin S-T, Fu Y-H (2009) miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination. Dis Model Mech 2:178-188
11. Sundblom J, Melberg A, Kalimo H, Smits A, Raininko R (2009) MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 30:328-335
12. Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J, Schwankhaus JD, Flanigan KM, Gregg RG, Ptácek LJ, Fu YH (2000) Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum Mol Genet 9:787-793
13. Schwankhaus JD, Katz DA, Eldridge R, Schlesinger S, McFarland H (1994) Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. Arch Neurol 51:757-766
14. Padiath QS, Fu Y-H (2010) Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. Methods Cell Biol 98:337-357
15. van der Voorn JP, Pouwels PJW, Hart AAM, Serrarens J, Willemsen MAAP, Kremer HPH, Barkhof F, van der Knaap MS (2006) Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology 241:510-517
16. Bizzi A, Castelli G, Bugiani M, Barker PB, Herskovits EH, Danesi U, Erbetta A, Moroni I, Farina L, Uziel G (2008) Classification of childhood white matter disorders using proton MR spectroscopic imaging. AJNR Am J Neuroradiol 29:1270-1275
17. Marklund L, Melin M, Melberg A, Giedraitis V, Dahl N (2006) Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23. Am J Med Genet B Neuropsychiatr Genet 141B:608-614
18. R Development Core Team (2010) R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. http://www.R-project.org/
19. Brockmann K, Dechent P, Wilken B, Rusch O, Frahm J, Hanefeld F (2003) Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology 60:819-825
20. Wang C, Melberg A, Weis J, Månsson J-E, Raininko R (2007) The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease. Acta Neurol Scand 116:268-272
21. Farina L, Bizzi A, Finocchiaro G, Pareyson D, Sghirlanzoni A, Bertagnolio B, Savoiardo M, Naidu S, Singhal BS, Wenger DA (2000) MR imaging and proton MR spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol 21:1478-1482
22. Brockmann K, Dechent P, Meins M, Haupt M, Sperner J, Stephani U, Frahm J, Hanefeld F (2003) Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol 250:300-306
23. 1H-MRS) and diffusion-weighted MRI. Neuropediatrics 37:209-221
24. Sohn S-Y, Ko Y-J, Hong JM, Kim S-H, Kim H-S, Kim J-H, Chi J-G, Moon SY (2010) A case of pigmentary orthochromatic leukodystrophy with findings of proton MR spectroscopy and serial brain MRIs. J Neurol Sci 295:23-26
25. 1H MRS of brain. J Magn Reson Imaging 14:281-292
26. Simmons A, Smail M, Moore E, Williams SC (1998) Serial precision of metabolite peak area ratios and water referenced metabolite peak areas in proton MR spectroscopy of the human brain. J Magn Reson Imaging 16:319-330
27. Chard DT, McLean MA, Parker GJM, MacManus DG, Miller DH (2002) Reproducibility of in vivo metabolite quantification with proton magnetic resonance spectroscopic imaging. J Magn Reson Imaging 15:219-225