Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids

Chinese Journal of Medical Genetics

Volumn 32, Issue 2, 2015, Pages 208-212

  Cheng, Xinxin ^a   Shen, Wei ^b   Zou, Haiqiang ^c   Shen, Lu ^b   Gu, Xiaohua ^a   Huang, Danqing ^d   Sun, Yi ^d   Wang, Bianrong ^d   Tian, Qi ^d   Xu, Jun ^e  

^a NANJING MEDICAL UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c GUANGZHOU GENERAL HOSPITAL OF GUANGZHOU MILITARY COMMAND   (China)

^d Jiangsu Province Hospital   (China)

^e NORTHERN JIANGSU PEOPLE S HOSPITAL   (China)

Author keywords

Colony stimulating factor 1 receptor gene; Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids; Mutation

Indexed keywords

COLONY STIMULATING FACTOR RECEPTOR; COLONY STIMULATING FACTOR RECEPTOR 1; GENOMIC DNA; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; CODING; DNA EXTRACTION; DNA SEQUENCE; FAMILY; FOLLOW UP; GENE MUTATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROID; HUMAN; LEUKOENCEPHALOPATHY; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DOMINANT GENE; FEMALE; GENETICS; MALE; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; FEMALE; GENES, DOMINANT; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR;

EID: 84930158942     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2015.02.012     Document Type: Article

References (18)

1. Axelsson R, Roytta M, Sourander P, et al. Hereditary diffuse leucoencephalopathy with spheroids [J]. Acta Psychiatr Scand Suppl, 1984,69(314): 1-65.
2. Wider C, Van Gerpen JA, DeArmond S, et al. Leukoencephalopathy with spheroids (HD1.S) and pigmentary leukodystrophy (P()I.D): a single entity? [J]. Neurology, 2009,72(22):1953-1959.
3. Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders [J]. Neurology, 2009,72(8): 750-759.
4. Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids[J]. Nat Genet, 2012,44(2): 200-205.
5. Akiyarna H, Nishimura T, Kondo H, et al. Expression of the receptor for macrophage colony stimulating factor by brain microglia and its upregulation in brains of patients with Alzheimer's disease and amyotrophic lateral sclerosis[J]. Brain Res, 1994,639(1): 171-174.
6. Raivich G, Haas S, Werner A, et al. Regulation of MCSF receptors on microglia in the normal and injured mouse central nervous system: a quantitative immunofluorescence study using confocal laser microscopy [J]. J Comp Neurol, 1998, 395(3): 342-358.
7. Wang Y, Berezovska O, Fedoroff S. Expression of colony stimulating factor-1 receptor (CSF-1R) by CNS neurons in mice[J]. J Neurosci Res, 1999,57(5): 616-632.
8. Van Gerpen JA, Wider C, Broderick DF, et al. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids[J]. Neurology, 2008,71(12): 925-929.
9. Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations[J]. Neurology,2012,79(6): 566-574.
10. Seelaar H, Rohrer JD, Pijnenburg YA, et al. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review[J]. J Neurol Neurosurg Psychiatry, 2011, 82 (5): 476-486.
11. Ballard C, Gauthier S, Corbett A, et al. Alzheimer's disease[J]. Lancet, 2011,377(9770): 1019-1031.
12. Seppi K. MRI for the differential diagnosis of neurodegenerative parkinsonism in clinical practice[J]. Parkinsonism Relat Disord, 2007,13(Suppl 3): S400-405.
13. Stadelmann C. Multiple sclerosis as a neurodegenerative disease: pathology, mechanisms and therapeutic implications [J]. Curr Opin Neurol, 2011,24(3):224-229.
14. Yazawa I, Nakano I, Yamada H, et al. Long tract degeneration in familial sudanophilic leukodystrophy with prominent spheroids[J]. J Neurol Sci, 1997,147(2): 185-191.
15. Zhang LF, Yang XS, Wang YF, et al. The clinical and genetic studies in a family of cerebral autosomaldominant arteriopathy with subcortical infarcts and leukoencephalopathy [J]. Chin J Med Genet, 2009, 26(2): 187-190. (in Chinese)
16. Stanley ER, Berg KL, Einstein DB, et al. Biology and action of colony-stimulating factor-l[J]. Mol Reprod Dev, 1997,46(1): 4-10.
17. Ridge SA, Worwood M, Oscier D, et al. FMS mutations in myelodysplastic, leukemic, and normal subjects[J]. Proc Natl Acad Sci U S A, 1990,87(4): 1377-1380.
18. Soares MJ, Pinto M, Henrique R, et al. CSF1R copy number changes, point mutations, and RNA and protein overexpression in renal cell carcinomas[J]. Mod Pathol, 2009,22(6): 744-752.