Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: An MRI-based study

Internal Medicine

Volumn 53, Issue 1, 2014, Pages 21-27

  Kinoshita, Michiaki ^a   Kondo, Yasufumi ^a   Yoshida, Kunihiro ^a   Fukushima, Kazuhiro ^a   Hoshi, Ken Ichi ^b   Ishizawa, Keisuke ^c   Araki, Nobuo ^c   Yazawa, Ikuru ^d   Washimi, Yukihiko ^d   Saitoh, Banyu ^e   Kira, Jun Ichi ^e   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGANO RED CROSS HOSPITAL   (Japan)

^c SAITAMA MEDICAL UNIVERSITY   (Japan)

^d NATIONAL CENTER FOR GERIATRICS AND GERONTOLOGY   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

Author keywords

Colony stimulating factor 1 receptor (CSF1R); Corpus callosum atrophy (CCA); Corpus callosum index (CCI); Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS); White matter lesions (WMLS)

Indexed keywords

COLONY STIMULATING FACTOR RECEPTOR;

ADULT; ARTICLE; BRAIN ATROPHY; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; FEMALE; GENE MUTATION; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROID; HUMAN; LEUKOENCEPHALOPATHY; MALE; MIDDLE AGED; MOTOR DYSFUNCTION; MULTIINFARCT DEMENTIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; WHITE MATTER LESION;

ADULT; AGED; ATROPHY; CORPUS CALLOSUM; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE FIBERS, MYELINATED; RETROSPECTIVE STUDIES;

EID: 84891650712     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.53.0863     Document Type: Article

References (32)

1. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 44: 200-205, 2012.
2. Wider C, Van Gerpen JA, DeArmond S, Shuster EA, Dickson DW, Wszolek ZK. Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD). A single entity? Neurology 72: 1953-1959, 2009.
3. Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 79: 566-574, 2012.
4. Moro-de-Casillas ML, Cohen ML, Riley DE. Leucoencephalopa-thy with neuroaxonal spheroids (LENAS) presenting as the cere-bellar subtype of multiple system atrophy. J Neurol Neurosurg Psychiatry 75: 1070-1072, 2004.
5. Keegan BM, Giannini C, Parisi JE, Lucchinetti CF, Boeve BF, Josephs KA. Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS. Neurology 70: 1128-1133, 2008.
6. Wong JC, Chow TW, Hazrati L-N. Adult-onset leukoencephalopa- thy with axonal spheroids and pigmented glia can present as frontotemporal dementia syndrome. Dement Geriatr Cogn Disord 32: 150-158, 2011.
7. Sundal C, Lash J, Aasly J, et al. Hereditary diffuse leukoencepha-lopathy with axonal spheroids (HDLS): A misdiagnosed disease entity. J Neurol Sci 314: 130-137, 2012.
8. Kondo Y, Kinoshita M, Fukushima K, Yoshida K, Ikeda S. 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, 2013.
9. Van Der Knaap MS, Naidu S, Kleinschmidt-Demasters BK, Kam-phorst W, Weinstein HC. Autosomal dominant diffuse leukoen-cephalopathy with neuroaxonal spheroids. Neurology 54: 463-468, 2000.
10. Terada H, Ishizu H, Yokota O, et al. An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease. Acta Neuropathol 108: 538-545, 2004.
11. Marotti JD, Tobias S, Fratkin JD, Powers JM, Rohdes CH. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol 107: 481-488, 2004.
12. Itoh K, Shiga K, Shimizu K, Muranishi M, Nakagawa M, Fushiki S. Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics. Acta Neuropathol 111: 39-45, 2006.
13. Baba Y, Ghetti B, Baker MC, et al. Hereditary diffuse leukoen-cephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 111: 300-311, 2006.
14. Freeman SH, Hyman BT, Sims KB, Hedley-Whyte ET, Vossough A, Frosch MP. Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol 19: 39-47, 2009.
15. 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 318: 115-118, 2012.
16. Román GC, Tatemichi TK, Erkinjuntti T, et al. Vascular dementia: diagnostic criteria for research studies. Report of the NINDS-AIREN International Workshop. Neurology 43: 250-260, 1993.
17. Sulter G, Steen C, De Keyser J. Use of the Barthel index and modified Rankin scale in acute stroke trial. Stroke 30: 1538-1541, 1999.
18. Figueira FFA, Dos Santos VS, Figueira GMA, Da Silva ÂCM. Corpus callosum index: a practical method for lomg-term follow-up in multiple sclerosis. Arq Neuropsiquiatr 65: 931-935, 2007.
19. Yaldizli O, Atefy R, Gass A, et al. Corpus callousm index and long-term disability in multiple sclerosis patients. J Neurol 257: 1256-1264, 2010.
20. Takeda S, Hirashima Y, Ikeda H, Yamamoto H, Sugino M, Endo S. Determination of indices of the corpus callosum associated with normal aging in Japanese individuals. Neuroradiol 45: 513-518, 2003.
21. Yamashita M, Yamamoto T. Neuroaxonal leukoencephalopathy with axonal spheroids. Eur Neurol 48: 20-25, 2002.
22. Oishi M, Mochizuki Y, Shikata E. Corpus callosum atrophy and cerebral blood flow in chronic alcoholics. J Neurol Sci 162: 51-55, 1999.
23. Jokinen H, Ryberg C, Kalska H, et al; LADIS group. Corpus cal-losum atrophy is associated with mental slowing and executive deficits in subjects with age-related white matter hyperintensities: the LADIS study. J Neurol Neurosurg Psychiatr 78: 491-496, 2007.
24. Jokinen H, Frederiksen KS, Garde E, et al. Callosal tissue loss parallels subtle decline in psychomotor speed. a longitudinal quantitative MRI study. The LADIS Study. Neuropsychologia 50: 1650-1655, 2012.
25. Meguro K, Constans JM, Courtheoux P, Theron J, Viader F, Yamadori A. Atrophy of the corpus callosum correlates with white matter lesions in patients with cerebral ischaemia. Neuroradiology 42: 413-419, 2000.
26. Tomimoto H, Lin JX, Matsuo A, et al. Different mechanisms of corpus callosum atrophy in Alzheimer's disease and vascular dementia. J Neurol 251: 398-406, 2004.
27. Ryberg C, Rostrup E, Sjöstrand K, et al; LADIS study group. White matter changes contribute to corpus callosum atrophy in the elderly: the LADIS study. AJNR Am J Neuroradiol 29: 1498-1504, 2008.
28. Di Paola M, Di Iulio F, Cherubini A, et al. When, where, and how the corpus callosum changes in MCI and AD: a multimodel MRI study. Neurology 74: 1136-1142, 2010.
29. Di Paola M, Luders E, Di Iulio F, et al. Callosal atrophy in mild cognitive impairment and Alzheimer's disease: different effects in different stages. Neuroimage 49: 141-149, 2010.
30. Frederiksen KS, Garde E, Skimminge A, et al. Corpus callosum tissue loss and development of motor and global cognitive impairment: the LADIS study. Dement Geriatr Cogn Disord 32: 279-286, 2011.
31. Lee DY, Fletcher E, Martinez O, et al. Vascular and degenerative processes differentially affect regional interhemispheric connections in normal aging, mild cognitive impairment, and Alzheimer disease. Stroke 41: 1791-1797, 2010.
32. Bartzokis G. Age-related myelin breakdown: a development model of cognitive decline and Alzheimer's disease. Neurobiol Aging 25: 5-18, 2004.