I-Cell Disease

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Hitoshi Terada - One of the best experts on this subject based on the ideXlab platform.

  • Hypoyelination in I-Cell Disease; MRI, MR spectroscopy and neuropathological correlation
    Brain & development, 2012
    Co-Authors: Jun-ichi Takanashi, Masaharu Hayashi, Shota Yuasa, Hiroyuki Satoh, Hitoshi Terada
    Abstract:

    Abstract MRI of a female patient with genetically diagnosed I-Cell Disease at 2 weeks, 4 and 8 months revealed delayed myelination or hypomyelination with decreased choline on MR spectroscopy. Brain autopsy was performed 2 h after death at 14-month-old. Immunoreactivities for myelin basic protein and proteolipid proteins, markers for mature myelin sheath, were reduced in the myelinated fibers and oligodendrocytes in the white matter, indicating the hypomyelination in the central nervous system. I-Cell Disease should be added to the list of delayed or hypomyelination conditions, and this neuroimaging finding could be a key for differentiating I-Cell Disease from the clinically similar disorder of Hurler syndrome characterized by perivascular lacunation.

  • Case report Hypoyelination in I-Cell Disease; MRI, MR spectroscopy and neuropathological correlation
    2012
    Co-Authors: Jun-ichi Takanashi, Masaharu Hayashi, Shota Yuasa, Hiroyuki Satoh, Hitoshi Terada
    Abstract:

    MRI of a female patient with genetically diagnosed I-Cell Disease at 2 weeks, 4 and 8 months revealed delayed myelination or hypomyelination with decreased choline on MR spectroscopy. Brain autopsy was performed 2 h after death at 14-month-old. Immunoreactivities for myelin basic protein and proteolipid proteins, markers for mature myelin sheath, were reduced in the myelinated fibers and oligodendrocytes in the white matter, indicating the hypomyelination in the central nervous system. I-Cell Disease should be added to the list of delayed or hypomyelination conditions, and this neuroimaging finding could be a key for differentiating I-Cell Disease from the clinically similar disorder of Hurler syndrome characterized by perivascular lacunation. 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Henry L. Nadler - One of the best experts on this subject based on the ideXlab platform.

  • First trimester prenatal evaluation for I‐cell Disease by N‐acetyl‐glucosamine 1‐phosphotransferase assay
    Clinical Genetics, 2008
    Co-Authors: Yoav Ben-yoseph, Deborah A. Mitchell, Henry L. Nadler
    Abstract:

    First trimester prenatal diagnosis was offered to a couple at risk for having a child with I-Cell Disease (mucolipidosis II). The prenatal evaluation was based for the first time on examination of N-acetylglucosamine 1-phosphotransferase activity, deficiency of which is the primary biochemical defect in both I-Cell Disease and pseudo-Hurler polydystrophy (mucolipidosis III). Heterozygote levels of this enzyme activity were determined in chorionic villi obtained at 9 weeks of gestation, as well as in cultured trophoblasts derived from this specimen, and led to the diagnosis of an unaffected fetus. This procedure has advantages over that based on detection of abnormal intracellular-extracellular distribution of lysosomal enzyme activities, which is expressed only in homozygotes and fully expressed only in cell culture specimens.

Jun-ichi Takanashi - One of the best experts on this subject based on the ideXlab platform.

  • Hypoyelination in I-Cell Disease; MRI, MR spectroscopy and neuropathological correlation
    Brain & development, 2012
    Co-Authors: Jun-ichi Takanashi, Masaharu Hayashi, Shota Yuasa, Hiroyuki Satoh, Hitoshi Terada
    Abstract:

    Abstract MRI of a female patient with genetically diagnosed I-Cell Disease at 2 weeks, 4 and 8 months revealed delayed myelination or hypomyelination with decreased choline on MR spectroscopy. Brain autopsy was performed 2 h after death at 14-month-old. Immunoreactivities for myelin basic protein and proteolipid proteins, markers for mature myelin sheath, were reduced in the myelinated fibers and oligodendrocytes in the white matter, indicating the hypomyelination in the central nervous system. I-Cell Disease should be added to the list of delayed or hypomyelination conditions, and this neuroimaging finding could be a key for differentiating I-Cell Disease from the clinically similar disorder of Hurler syndrome characterized by perivascular lacunation.

  • Case report Hypoyelination in I-Cell Disease; MRI, MR spectroscopy and neuropathological correlation
    2012
    Co-Authors: Jun-ichi Takanashi, Masaharu Hayashi, Shota Yuasa, Hiroyuki Satoh, Hitoshi Terada
    Abstract:

    MRI of a female patient with genetically diagnosed I-Cell Disease at 2 weeks, 4 and 8 months revealed delayed myelination or hypomyelination with decreased choline on MR spectroscopy. Brain autopsy was performed 2 h after death at 14-month-old. Immunoreactivities for myelin basic protein and proteolipid proteins, markers for mature myelin sheath, were reduced in the myelinated fibers and oligodendrocytes in the white matter, indicating the hypomyelination in the central nervous system. I-Cell Disease should be added to the list of delayed or hypomyelination conditions, and this neuroimaging finding could be a key for differentiating I-Cell Disease from the clinically similar disorder of Hurler syndrome characterized by perivascular lacunation. 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Misao Owada - One of the best experts on this subject based on the ideXlab platform.

  • I-Cell Disease: clinical studies of 21 Japanese cases.
    Clinical Genetics, 2008
    Co-Authors: Shintaro Okada, Misao Owada, Takeshi Sakiyama, Tohru Yutaka, Minoru Ogawa
    Abstract:

    Clinical pictures of 21 cases with I-Cell Disease patients, 12 males and 9 females, were analyzed. Characteristic coarse facial features and shortness of stature were observed in all cases. In general, the motor development was found to be more severely retarded than the mental development of the patients. Rather little involvement of the nervous system seemed to cause somewhat acceptable mental development in some cases, and also cause the absence of epileptic seizures in all cases. Involvement of the cardiovascular system, especially progressive hypertrophic cardiomyopathy, could be highly responsible for frequent sudden death of I-Cell Disease patients.

  • I-Cell Disease and pseudo-Hurler polydystrophy
    Nihon rinsho. Japanese journal of clinical medicine, 1995
    Co-Authors: Misao Owada
    Abstract:

    I-Cell Disease (ML II) and pseudo-Hurler poly-dystrophy (ML-III) are lysosomal storage Diseases caused by abnormal lysosomal enzyme phosphorylation and localization. In both Diseases, newly synthesized lysosomal enzymes are secreted into the extra-cellular medium instead of being targeted correctly to lysosomes. All cells and tissues of affected medium instead of being targeted correctly to lysosomes. All cells and tissues of affected patients are deficient in UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase activity. However, we have demonstrated that liver cells from ML II patients have normal lysosomal enzyme contents. In Japan, ML II is a relatively common disorder whereas ML III is very rare as compared to Western Countries. The natural history of 21 cases with ML II, as well as 5 prenatally diagnosed cases of ML II, have been reported by our research group.

Darin Wright - One of the best experts on this subject based on the ideXlab platform.

  • Light and heavy lysosomes: characterization of N-acetyl-β-D-hexosaminidase isolated from normal and I-Cell Disease lymphoblasts
    Glycobiology, 1993
    Co-Authors: Arnold L. Miller, Valerie Norton, Robin Robertson, Michael Jenks, Richard Y. Yeh, Darin Wright
    Abstract:

    We previously reported that I-Cell Disease lymphoblasts maintain normal or near-normal intracellular levels of lysosomal enzymes, even though N-acetylglucosamine-1-phosphotransferase activity is severely depressed or absent (Little et al., Biochem. J., 248, 151-159, 1987). The present study, employing subcellular fractionation on colloidal silica gradients, indicates that both light and heavy lysosomes isolated from I-Cell Disease and pseudo-Hurler polydystrophy lymphoblasts possess normal specific activity levels of N-acetyl-beta-D-hexosaminidase, alpha-D-mannosidase and beta-D-glucuronidase. These current findings are in contrast to those of cultured fibroblasts from the same patients, where decreased intralysosomal enzyme activities are found. Column chromatography on Ricinus communis revealed that N-acetyl-beta-D-hexosaminidase in both heavy and light I-Cell Disease lysosomal fractions from lymphoblasts possesses an increased number of accessible galactose residues (30-50%) as compared to the enzyme from the corresponding normal controls. Endo-beta-N-acetylglucosaminidase H treatment of N-acetyl-beta-D-hexosaminidase from the I-Cell lysosomal fractions suggests that the majority of newly synthesized high-mannose-type oligosaccharide chains are modified to complex-type carbohydrates prior to being transported to lysosomes. This result from lymphoblasts differs from previous findings with fibroblasts, where N-acetyl-beta-D-hexosaminidase from I-Cell Disease and pseudo-Hurler polydystrophy lysosomes exhibited properties associated with predominantly high-mannose-type oligosaccharide chains.(ABSTRACT TRUNCATED AT 250 WORDS)