Literature DB >> 2837134

Infantile Gaucher's disease: a case with neuronal storage.

M Grafe1, C Thomas, J Schneider, B Katz, C Wiley.   

Abstract

The brain of a 17-month-old boy with infantile Gaucher's disease and oculomotor apraxia was studied by light and electron microscopy. Light microscopic examination showed large perivascular accumulations of Gaucher's cells in frontal lobe white matter, severe neuronal loss in the calcarine cortex and dentate nucleus of the cerebellum, and neuronophagia and microglial nodules in the brainstem. Electron microscopy demonstrated intraneuronal cytoplasmic inclusions containing twisted tubules characteristic of Gaucher's disease in both the oculomotor nucleus and a random sample of cortex.

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Year:  1988        PMID： 2837134     DOI： 10.1002/ana.410230315

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  12 in total

1.  Abnormal vertical optokinetic nystagmus in infants and children.

Authors:  S Garbutt; C M Harris
Journal:  Br J Ophthalmol       Date:  2000-05       Impact factor: 4.638

2.  Gaucher disease in sheep.

Authors:  Litsa Karageorgos; Malcolm J Lancaster; Judith S Nimmo; John J Hopwood
Journal:  J Inherit Metab Dis       Date:  2010-10-27       Impact factor: 4.982

Review 3.  Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.

Authors:  N Gupta; I M Oppenheim; E F Kauvar; N Tayebi; E Sidransky
Journal:  Blood Cells Mol Dis       Date:  2010-09-28       Impact factor: 3.039

4.  Uptake of mannose-terminal glucocerebrosidase in cultured human cholinergic and dopaminergic neuron cell lines.

Authors:  U Schueler; C Kaneski; G Murray; K Sandhoff; R O Brady
Journal:  Neurochem Res       Date:  2002-04       Impact factor: 3.996

5.  Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.

Authors:  M Elleder
Journal:  J Inherit Metab Dis       Date:  2006-11-02       Impact factor: 4.982

6.  Pathological α-syn aggregation is mediated by glycosphingolipid chain length and the physiological state of α-syn in vivo.

Authors:  Kristina Fredriksen; Stefanos Aivazidis; Karan Sharma; Kevin J Burbidge; Caleb Pitcairn; Friederike Zunke; Eilrayna Gelyana; Joseph R Mazzulli
Journal:  Proc Natl Acad Sci U S A       Date:  2021-12-14       Impact factor: 12.779

7.  A model of neuronopathic Gaucher disease.

Authors:  P E Campbell; C M Harris; C M Harris; T Sirimanna; A Vellodi
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 8.  Neuroinflammation in Gaucher disease, neuronal ceroid lipofuscinosis, and commonalities with Parkinson's disease.

Authors:  Laetitia Francelle; Joseph R Mazzulli
Journal:  Brain Res       Date:  2022-01-19       Impact factor: 3.610

9.  Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.

Authors:  Ying Sun; Jane Florer; Christopher N Mayhew; Zhanfeng Jia; Zhiying Zhao; Kui Xu; Huimin Ran; Benjamin Liou; Wujuan Zhang; Kenneth D R Setchell; Jianguo Gu; Gregory A Grabowski
Journal:  PLoS One       Date:  2015-03-30       Impact factor: 3.240

Review 10.  Imiglucerase in the treatment of Gaucher disease: a history and perspective.

Authors:  Patrick B Deegan; Timothy M Cox
Journal:  Drug Des Devel Ther       Date:  2012-04-18       Impact factor: 4.162
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