Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)

Journal of Neurology

Volumn 261, Issue 12, 2014, Pages 2351-2359

  Bender, Benjamin ^a   Klose, Uwe ^a   Lindig, Tobias ^a   Biskup, Saskia ^b,c,d   Nägele, Thomas ^a   Schöls, Ludger ^b,c   Karle, Kathrin N ^b,c  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^d CEGAT GMBH   (Germany)

Author keywords

DWI; HDLS; MRI; Spectroscopy

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; DIFFUSION WEIGHTED IMAGING; DISEASE COURSE; FEMALE; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROID; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MALE; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PRIORITY JOURNAL; PYRAMIDAL TRACT; SCORING SYSTEM; SPECTROSCOPY; TUMOR SPHEROID; WHITE MATTER LESION; BRAIN; FRONTAL LOBE; GENETICS; HETEROZYGOTE; LEUKOENCEPHALOPATHIES; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PARIETAL LOBE; PATHOLOGY; WHITE MATTER;

COLONY STIMULATING FACTOR RECEPTOR;

ADULT; BRAIN; DIFFUSION MAGNETIC RESONANCE IMAGING; FEMALE; FRONTAL LOBE; HETEROZYGOTE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; MUTATION; PARIETAL LOBE; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR; WHITE MATTER;

EID: 84922002836     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7509-2     Document Type: Article

References (45)

1. Axelsson R, Röyttä M, Sourander P, Akesson HO, Andersen O (1984) Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl 314:1–65
2. Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Jam Van Gerpen et al (2011) Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 44:200–205
3. Wider C, Van Gerpen JA, DeArmond S, Shuster EA, Dickson DW, Wzzolek ZK (2009) Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology 72:1953–1959
4. Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R (2013) CSF1R mutations link POLD and HDLS as a single disease entity. Neurology 80:1033–1040
5. Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Borjesson-Hanson A, Tselis A, Swerdlow RH, Miller BB, Fujioka S, Heckman MG, Uitti RJ, Josephs KA, Baker M, Andersen O, Rademakers R, Dickson DW, Broderick D, Wszolek ZK (2012) MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 79:566–574
6. Keegan BM, Giannini C, Parisi JE, Lucchinetti CF, Boeve BF, Josephs KA (2008) Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS. Neurology 70:1128–1133
7. Itoh K, Shiga K, Shimizu K, Muranishi M, Nakagawa M, Fushiki S (2006) Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics. Acta Neuropathol 111:39–45
8. Kinoshita M, Yoshida K, Oyanagi K, Hashimoto T, Ikeda S (2012) Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report. J Neurol Sci 318:115–118
9. Kondo Y, Kinoshita M, Fukushima K, Yoshida K, Ikeda S (2013) Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. Intern Med 52:503–506
10. Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L (2013) De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology 81:2039–2044
11. Hoffmann S, Murrell J, Harms L, Miller K, Meisel A, Brosch T, Scheel M, Ghetti B, Goebel HH, Stenzel W (2014) Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Brain Pathol. doi:10.1111/bpa.12120 (in press)
12. Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa M, Isami A, Okazaki K, Yokoo H, Itoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A, Ikeuchi T (2014) Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology 82:139–148
13. Terasawa Y, Osaki Y, Kawarai T, Sugimoto T, Orlacchio A, Abe T, Izumi Y, Kaji R (2013) Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. J Neurol Sci 335:213–214
14. Mateen FJ, Keegan BM, Krecke K, Parisi JE, Trenerry MR, Pittock SJ (2010) Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study. J Neurol Neurosurg Psychiatry 81:619–622
15. Boissé L, Islam O, Woulfe J, Ludwin SK, Brunet DG (2010) Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings. J Neurol Neurosurg Psychiatry 81:313–340
16. Sundal C, Ekholm S, Nordborg C, Jönsson L, Börjesson-Hanson A, Lindén T, Zetterberg H, Viitanen M, Andersen O (2012) Update of the original HDLS kindred: divergent clinical causes. Acta Neurol Scand 126:67–75
17. Freeman SH, Hyman BT, Sims KB, Hedley-Whyte ET, Vossough A, Frosch MP, Schmahmann JD (2009) Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol 19:39–47
18. Sundal C, Lash J, Aasly J, Øygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK (2012) Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease ententity. J Neurol Sci 314:130–137
19. Sohn SY, Ko YJ, Hong JM, Kim SH, Kim HS, Kim JH, Chi JG, 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
20. Terada S, Ishizu H, Yokota O, Ishihara T, Nakashima H, Kugo A, Tanaka Y, Nakashima T, Nakashima Y, Kuroda S (2004) An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer’s disease. Acta Neuropathol 108:538–545
21. Mendes A, Pinto M, Vieira S, Castro L, Carpenter S (2010) Adult-onset leukodystrophy with axonal spheroids. J Neurol Sci 297:40–45
22. Baba Y, Ghetti B, Baker MC, Uitti RJ, Hutton ML, Yamaguchi K, Bird T, Lin W, DeLucia MW, Dickson DW, Wszolek ZK (2006) Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 111:300–311
23. Yamashita M, Yamamoto T (2002) Neuroaxonal leukencephalopathy with axonal spheroids. Eur Neurol 48:20–25
24. Browne L, Sweeney BJ, Farrell MA (2003) Late-onset neuroaxonal leukoencephalopathy with spheroids and vascular amyloid. Eur Neurol 50:85–90
25. Van Gerpen JA, Wider C, Broderick DF, Dickson DW, Brown LA, Wszolek ZK (2008) Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology 71:925–929
26. Sundal C, Ekholm S, Andersen O (2010) White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and there MRI findings. Acta Neurol Scand 121:328–337
27. Mayer B, Oelschlaeger C, Keyvani K, Niederstadt T (2007) Two cases of LENAS: diagnosis by MRI and biopsy. J Neurol 254:1453–1454
28. Maillart E, Rousseau A, Galanaud D, Gray F, Polivka M, Labauge P, Hauw JJ, Lyon-Caen O, Gout O, Sedel F (2009) Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids. J Neurol 256:1649–1654
29. Moro-de-Casillas ML, Cohen ML, Riley DE (2004) Leukoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy. J Neurol Neurosurg Psychiatry 75:1070–1072
30. Hancock N, Poon M, Taylor B, McLean C (2003) Hereditary diffuse leukencephalopathy with spheroids. J Neurol Neurosurg Psychiatry 74:1345–1347
31. van der Knaap MS, Naidu S, Kleinschmidt-Demasters BK, Kamphorst W, Weinstein HC (2000) Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology 54:463–479
32. Glanville NT, Byers DM, Cook HW, Spence MW, Palmer FB (1989) Differences in the metabolism of inositol and phosphoinositides by cultured cells of neuronal and glial origin. Biochim Biophys Acta 1004:169–179
33. Ross BD, Bluml S, Cowan R, Danielsen E, Farrow N, Gruetter R (1997) In vivo magnetic resonance spectroscopy of human brain: the biophysical basis of dementia. Biophys Chem 68:161–172
34. Ross B, Bluml S (2001) Magnetic resonance spectroscopy of the human brain. Anat Rec 265:54–84
35. López-Villegas D, Lenkinski RE, Wehrli SL, Douglas SD (1995) Lactate production by human monocytes/macrophages determined by proton MR spectroscopy. Magn Reson Med 34:32–38
36. Bender B, Bornemann A, Reimold M, Ernemann U, Horger M (2012) Imaging findings in autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)—CADASIL—the most frequent familial stroke syndrome. Rofo 184:679–683
37. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) Cadasil. Lancet Neurol 8:643–653
38. Akhvlediani T, Henning A, Sándor PS, Boesiger P, Jung HH (2010) Adaptive metabolic changes in CADASIL white matter. J Neurol 257:171–177
39. Yao M, Jouvent E, Durin M, Godin O, Hervé D, Guichard JP, Zhu YC, Gschwendtner A, Opherk C, Dichgans M, Chabriat H (2012) Extensive white matter hyperintensities may increase brain volume in cerebral autosomal-dominant arteriopathy with subcortical infarct and leukoencephalopathy. Stroke 43:3252–3257
40. Kinoshita M, Kondo Y, Yoshida K, Fukushima K, Hoshi K, Ishizawa K, Araki N, Yazawa I, Washimi Y, Saitoh B, Kira J, Ikeda S (2014) Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: an MRI-based study. Intern Med 53:21–27
41. Kantarci K, Petersen C, Boeve BF, Knopman DS, Tang-Wai DF, O’Brien PC, Weigand SD, Edland SD, Smith GE, Ivnik RJ, Ferman TJ, Tangalos EG, Jack CR Jr (2004) 1H MR spectroscopy in common dementias. Neurology 63:1393–1398
42. Nitkunan A, Charlton RA, Barrick TR, McIntyre DJO, Howe FA, Markus HS (2009) Reduced N-aceylaspartate is consistent with axonal dysfunction in cerebral small vessel disease. NMR Biomed 22:285–291
43. Seo SW, Lee BH, Kim E-J, Chin J, Sun Cho Y, Yoon U, Na DL (2007) Clinical significance of microbleeds in subcortical vascular dementia. Stroke 38:1949–1951
44. Balashov KE, Aung LL, Dhib-Jalbut S, Keller IA (2011) Acute multiple sclerosis lesion: conversion of restricted diffusion due to vasogenic edema. J Neuroimaging 21:202–204
45. Christiansen P, Larsson HB, Thomsen C, Wieslander SB, Henriksen O (1994) Age dependent white matter lesions and brain volume changes in healthy volunteers. Acta Radiol 35:117–122