A clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: A report of two cases

Neuropathology and Applied Neurobiology

Volumn 39, Issue 7, 2013, Pages 837-843

  Kimura, T ^a   Ishizawa, K ^a   Mitsufuji, T ^a   Abe, T ^a   Nakazato, Y ^a   Yoshida, K ^b   Sasaki, A ^a   Araki, N ^a  

^a SAITAMA MEDICAL UNIVERSITY   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRAIN BIOPSY; CASE REPORT; CSF1R GENE; EXON; FEMALE; GENE LOCATION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEUKOENCEPHALOPATHY; MALE; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RECEPTOR GENE; SPORADIC DIFFUSE LEUKOENCEPHALOPATHY; TREM2 GENE; TYROBP GENE;

ADULT; BIOPSY; BRAIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; MUTATION; SPHEROIDS, CELLULAR;

EID: 84886777307     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/nan.12046     Document Type: Article

References (30)

1. Baba Y, Ghetti B, Baker MC, Uitti RJ, Hutton ML, Yamaguchi K, Bird T, Lin W, DeLucia MW, Dickson DW, Wszolek ZK. Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol (Berl) 2006; 111: 300-311
2. Axelsson R, Roytta M, Sourander P, Akesson HO, Andersen O. Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl 1984; 314: 1-65
3. Hancock N, Poon M, Taylor B, McLean C. Hereditary diffuse leucoencephalopathy with spheroids. J Neurol Neurosurg Psychiatry 2003; 74: 1345-1347
4. Marotti JD, Tobias S, Fratkin JD, Powers JM, Rhodes CH. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol (Berl) 2004; 107: 481-488
5. Sundal C, Lash J, Aasly J, Oygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci 2012; 314: 130-137
6. van der Knaap MS, Naidu S, Kleinschmidt-Demasters BK, Kamphorst W, Weinstein HC. Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology 2000; 54: 463-468
7. Tan K, Brewer J, Rowe DB, Jenkins B, Powers JM, Buckland ME. Adult onset leucodystrophy with neuroaxonal spheroids and pigmented glia (ALSP): report of a new kindred. Neuropathol Appl Neurobiol 2012; 38: 95-100
8. Mendes A, Pinto M, Vieira S, Castro L, Carpenter S. Adult-onset leukodystrophy with axonal spheroids. J Neurol Sci 2010; 297: 40-45
9. 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, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2012; 44: 200-205
10. Terada S, Ishizu H, Yokota O, Ishihara T, Nakashima H, Kugo A, Tanaka Y, Nakashima T, Nakashima Y, Kuroda S. An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease. Acta Neuropathol (Berl) 2004; 108: 538-545
11. Van Gerpen JA, Wider C, Broderick DF, Dickson DW, Brown LA, Wszolek ZK. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology 2008; 71: 925-929
12. Wong JC, Chow TW, Hazrati LN. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia can present as frontotemporal dementia syndrome. Dement Geriatr Cogn Disord 2011; 32: 150-158
13. Mateen FJ, Keegan BM, Krecke K, Parisi JE, Trenerry MR, Pittock SJ. Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study. J Neurol Neurosurg Psychiatry 2010; 81: 619-622
14. Mayer B, Oelschlaeger C, Keyvani K, Niederstadt T. Two cases of LENAS: diagnosis by MRI and biopsy. J Neurol 2007; 254: 1453-1454
15. Maillart E, Rousseau A, Galanaud D, Gray F, Polivka M, Labauge P, Hauw JJ, Lyon-Caen O, Gout O, Sedel F. Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids. J Neurol 2009; 256: 1649-1654
16. Browne L, Sweeney BJ, Farrell MA. Late-onset neuroaxonal leucoencephalopathy with spheroids and vascular amyloid. Eur Neurol 2003; 50: 85-90
17. Goodman LA, Dickson DW. Nonhereditary diffuse leukoencephalopathy with axonal spheroids presenting as early-onset, rapidly progressive dementia (abstract). J Neuropathol Exp Neurol 1995; 54: 471
18. Yamashita M, Yamamoto T. Neuroaxonal leukoencephalopathy with axonal spheroids. Eur Neurol 2002; 48: 20-25
19. Levin N, Soffer D, Biran I, Gomori JM, Bocher M, Blumen SC, Abramsky O, Segal R, Lossos A. Leukoencephalopathy with neuroaxonal spheroids presenting as frontotemporal dementia. Isr Med Assoc J 2008; 10: 386-387
20. Keegan BM, Giannini C, Parisi JE, Lucchinetti CF, Boeve BF, Josephs KA. Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS. Neurology 2008; 70: 1128-1133
21. Moro-de-Casillas ML, Cohen ML, Riley DE. Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy. J Neurol Neurosurg Psychiatry 2004; 75: 1070-1072
22. Mascalchi M, Gavazzi C, Morbin M, Giaccone G, Arnetoli G, Zappoli R, Bugiani O. CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia. AJNR Am J Neuroradiol 2006; 27: 1037-1039
23. Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet 2002; 71: 656-662
24. Numasawa Y, Yamaura C, Ishihara S, Shintani S, Yamazaki M, Tabunoki H, Satoh JI. Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family. Eur J Neurol 2010; 18: 1179-1183
25. Paloneva J, Kestilä M, Wu J, Salminen A, Böhling T, Ruotsalainen V, Hakola P, Bakker AB, Phillips JH, Pekkarinen P, Lanier LL, Timonen T, Peltonen L. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet 2000; 25: 357-361
26. Amano N, Iwabuchi K, Sakai H, Yagishita S, Itoh Y, Iseki E, Yokoi S, Arai N, Kinoshita J. Nasu-Hakola's disease (membranous lipodystrophy). Acta Neuropathol (Berl) 1987; 74: 294-299
27. Jellinger KA, Duda J. Neuroaxonal dystrophies. In Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. Ed. DW Dickson. Basel: ISN Neuropath Press, 2003; 386-389
28. Saito Y, Kawashima A, Ruberu NN, Fujiwara H, Koyama S, Sawabe M, Arai T, Nagura H, Yamanouchi H, Hasegawa M, Iwatsubo T, Murayama S. Accumulation of phosphorylated alpha-synuclein in aging human brain. J Neuropathol Exp Neurol 2003; 62: 644-654
29. Kinoshita M, Yoshida K, Oyanagi K, Hashimoto T, Ikeda S. Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report. J Neurol Sci 2012; 318: 115-118
30. Boisse L, Islam O, Woulfe J, Ludwin SK, Brunet DG. Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings. J Neurol Neurosurg Psychiatry 2010; 81: 313-314