Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome

被引:77
作者
Wong, K
Armstrong, RC
Gyure, KA
Morrison, AL
Rodriguez, D
Matalon, R
Johnson, AB
Wollmann, R
Gilbert, E
Le, TQ
Bradley, CA
Crutchfield, K
Schiffmann, R
机构
[1] Armed Forces Inst Pathol, Dept Neuropathol, Washington, DC 20306 USA
[2] Uniformed Serv Univ Hlth Sci, Dept Anat & Cell Biol, Bethesda, MD 20814 USA
[3] Hop St Vincent de Paul, INSERM, U342, Serv Neuropediat,AP HP, F-75674 Paris, France
[4] Univ Texas, Med Ctr, Galveston, TX 77555 USA
[5] Albert Einstein Coll Med, Dept Pathol, New York, NY USA
[6] Albert Einstein Coll Med, Dept Neurosci, New York, NY USA
[7] Univ Chicago Hosp, Dept Pathol, Chicago, IL 60637 USA
[8] Tampa Gen Hosp, Dept Pathol, Tampa, FL 33606 USA
[9] NINDS, Dev & Metab Neurol Branch, NIH, Bethesda, MD 20892 USA
关键词
childhood ataxia with diffuse central; nervous system hypomyelination (CACH syndrome); leukodystrophy; myelin; oligodendroglia;
D O I
10.1007/s004010000234
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Childhood ataxia with diffuse central nervous system hypomyelination syndrome (CACH) is a recently described leukodystrophy of unknown etiology. To characterize the neuropathological features and gain insight as to the pathogenesis of this disorder, we studied cerebral tissue from six patients with the CACH syndrome. Evaluation of toluidine blue-stained, semithin sections of white matter from CACH patients disclosed unusual cells with "foamy" cytoplasm, small round nuclei and fine chromatin. Electron microscopy (EM) revealed cells in the white matter with abundant cytoplasm containing many mitochondria and loosely clustered, membranous structures, but lacking the lysosomal structures seen in macrophages. Further analysis of tissue sections with antibodies and special stains demonstrated that the abnormal cells with abundant cytoplasm labeled with oligodendroglial markers, but did not react with macrophage or astrocytic markers. Double immunolabeling with macrophage and oligodendroglial markers clearly distinguished macrophages from the "foamy" oligodendroglial cells (FODCs). Proteolipid protein (PLP) mRNA in situ hybridization demonstrated PLP mRNA transcripts in a high proportion of oligodendrocytes in CACH patients compared to control patients, and PLP mRNA transcript signal in cells, morphologically consistent with FODCs. Normal and pathological brain control tissues did not contain FODCs. These neuropathological findings will be useful pathological identifiers of CACH, and may provide clues to the pathogenesis of this disorder.
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页码:635 / 646
页数:12
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