A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis

Multiple Sclerosis Journal

Volumn 19, Issue 10, 2013, Pages 1367-1370

  Saitoh, Ban Yu ^a   Yamasaki, Ryo ^a   Hayashi, Shintaro ^a   Yoshimura, Satoshi ^a   Tateishi, Takahisa ^a   Ohyagi, Yasumasa ^a   Murai, Hiroyuki ^a   Iwaki, Toru ^a   Yoshida, Kunihiro ^b   Kira, Jun Ichi ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

CSF1R; demyelination; Leukoencephalopathy; microglia; multiple sclerosis; spheroid; T cell

Indexed keywords

COLONY STIMULATING FACTOR 1 RECEPTOR; CYTOKINE RECEPTOR; DNA; METHYLPREDNISOLONE; MYELIN BASIC PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN BIOPSY; CASE REPORT; CD3+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CLINICAL FEATURE; CORTICOSTEROID THERAPY; DEMYELINATION; DNA SEQUENCE; DYSARTHRIA; FEMALE; GENE MUTATION; GENETIC DISORDER; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMAGE ANALYSIS; LEUKOENCEPHALOPATHY; MACROPHAGE; MINI MENTAL STATE EXAMINATION; MULTIPLE SCLEROSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; SEQUENCE ANALYSIS; SPASTIC GAIT; SPHEROID CELL; WHITE MATTER;

CSF1R; DEMYELINATION; LEUKOENCEPHALOPATHY; MICROGLIA; MULTIPLE SCLEROSIS; SPHEROID; T CELL;

ADULT; BASE SEQUENCE; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MOLECULAR SEQUENCE DATA; MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE; MUTATION; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR;

EID: 84883323521     PISSN: 13524585     EISSN: 14770970     Source Type: Journal    
DOI: 10.1177/1352458513489854     Document Type: Article

References (10)

1. Rademakers R, Baker M, Nicholson AM, et al. Mutations in colony stimulating factor 1 (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2012 ; 44: 200-205
2. Keegan BM, Giannini C, Parisi JE, et al. Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS. Neurology. 2008 ; 70: 1128-1133
3. Mateen FJ, Keegan BM, Krecke K, et al. Sporadic leucodystrophy with neuroaxonal spheroids: Persistence of DWI changes and neurocognitive profiles: A case study. J Neurol Neurosurg Psychiatry. 2010 ; 81: 619-622
4. Axelsson R, Röyttä M, Sourander P, et al. Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand. 1984 ; 314: 1-65
5. 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
6. Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 2012 ; 79: 566-574
7. Van Gerpen JA, Wider C, Broderick DF, et al. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology. 2008 ; 71: 925-929
8. Mitsui J, Matsukawa T, Ishiura H, et al. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet. 2012 ; 159B: 951-957
9. Martinez-Saez E, Shah S, Costa C, et al. Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions. Neuropathology. 2012 ; 32: 285-292
10. Wang Y, Szretter KJ, Vermi W, et al. IL-34 is a tissue-restricted ligand of CSF1R required for the development of Langerhans cells and microglia. Nat Immunol. 2012 ; 13: 753-760