Early pathologic changes in Hereditary diffuse leukoencephalopathy with spheroids

Journal of Neuropathology and Experimental Neurology

Volumn 73, Issue 12, 2014, Pages 1183-1190

  Riku, Yuichi ^a   Ando, Takashi ^b   Goto, Yoji ^b   Mano, Kazuo ^b   Iwasaki, Yasushi ^c   Sobue, Gen ^a   Yoshida, Mari ^c  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^c AICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

Autopsy; Axonal spheroids; CSF1R gene; Hereditary diffuse leukoencephalopathy with spheroids; Leukoencephalopathy; MRI; Pigmentary leukodystrophy

Indexed keywords

ANTIBIOTIC AGENT; CD68 ANTIGEN; CYSTEINE ETHYL ESTER TC 99M; MYELIN;

ADULT; AMNESIA; ANTIBIOTIC THERAPY; APATHY; APHASIA; APRAXIA; ARTICLE; ASPIRATION PNEUMONIA; AUTOPSY; BASAL GANGLION; BRAIN CALCIFICATION; BRAIN WEIGHT; BRONCHOPNEUMONIA; CASE REPORT; CAUSE OF DEATH; CEREBELLUM; COLONY STIMULATING FACTOR 1 RECEPTOR GENE; COMPULSION; CONTROLLED STUDY; DENTATE NUCLEUS; DEPRESSION; DIFFUSE AXONAL INJURY; ELECTROENCEPHALOGRAPHY; FAMILY HISTORY; FEMALE; FRONTAL LOBE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH SPHEROID; HETEROZYGOTE; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; JAPANESE (PEOPLE); LEUKOENCEPHALOPATHY; LIMB WEAKNESS; MICROGLIA; MIDDLE AGED; MIDDLE CEREBELLAR PEDUNCLE; MILIARY TUBERCULOSIS; MINI MENTAL STATE EXAMINATION; MYELIN DEFICIENCY; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARIETAL LOBE; PYRAMIDAL TRACT; QUADRIPLEGIA; RECEPTOR GENE; RESPIRATORY FAILURE; SEQUENCE ANALYSIS; SIBLING; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPASTICITY; THETA RHYTHM; TONIC CLONIC SEIZURE; TUBERCULOSIS; WESTERN BLOTTING; WHITE MATTER; EARLY DIAGNOSIS; GENETICS; PATHOLOGY;

ADULT; EARLY DIAGNOSIS; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MIDDLE AGED;

EID: 84915789045     PISSN: 00223069     EISSN: 15546578     Source Type: Journal    
DOI: 10.1097/NEN.0000000000000139     Document Type: Article

References (19)

1. Axelsson R, Röyttä M, Sourander P, et al. Hereditary diffuse leukoencephalopathywith spheroids. Acta Psychiatr Scand Suppl 1984;314:1-65
2. Wider C, Van Gerpen JA, DeArmond S, et al. Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD). A single entity? Neurology 2009;72:1953-59
3. Van Gerpen JA, Wider C, Broderick DF, et al. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology 2008;71:925-29
4. Kinoshita M, Yoshida K, Oyanagi K, et al. Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report. J Neurol Sci 2012;318:115-18
5. Marotti JD, Tobias S, Fratkin JD, et al. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: Report of a family, historical perspective, and review of the literature. Acta Neuropathol (Berl) 2004; 107:481-88
6. 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 2012;44:200-7
7. Mitsui J, Matsukawa T, Ishiura H, et al. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet Part B 2012;159B:951-57
8. Konnno T, Tada M, Tada M, et al. Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology 2014;82:1-10
9. Braak H, Alafuzoff I, Arzberger T, et al. Staging of Alzheimer diseaseassociated neurofibrillary pathology using paraffin sections and immunocytochemistry. Acta Neuropathol 2006;112:389-404
10. Yazawa I, Nakano I, Yamada H, Oda M. Long tract degeneration in familial sudanophilic leukodystrophy with prominent spheroids. J Neurol Sci 1997;147:185-91
11. 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: 1070-72
12. Browne L, Sweeney B, Farrell M. Late-onset neuroaxonal leucoencephalopathy with spheroids and vascular amyloid. Eur Neurol 2003; 50:85-90
13. Lin WL, Wszolek ZK, Dickson DW. Hereditary diffuse leukoencephalopathy with spheroids: Ultrastructural and immunoelectron microscopic studies. Int J Clin Exp Pathol 2010;3:665-74
14. Freeman SH, Hyman BT, Sims KB, et al. Adult onset leukodystrophy with neuroaxonal spheroids: Clinical, neuroimaging and neuropathologic observations. Brain Pathol 2008;19:39-47
15. Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 2012;79:566-74
16. Sundal C, Jönsson L, Ljungberg M, et al. Different stages of white matter changes in the original HDLS family revealed by advanced MRI techniques. J Neuroimaging 2014;24:444-52
17. Stanley ER, Berg KL, Einstein DB, et al. Biology and action of colonystimulating factor-1. Mol Reprod Dev 1997;46:4-10
18. Kondo Y, Adams JM, Vanier MT, et al. Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophy. J Neurosci 2011;31:3610-24
19. Nandi S, Gokhan S, Dai XM, et al. The CSF-1 receptor ligands IL-34 and CSF-1 exhibit distinct developmental brain expression patterns and regulate neural progenitor cell maintenance and maturation. Dev Biol 2012;367:100-13