Literature DB >> 11901023

MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata.

Angèle Viola1, Sylviane Confort-Gouny, Jean-Philippe Ranjeva, Brigitte Chabrol, Charles Raybaud, Francisca Vintila, Patrick J Cozzone.   

Abstract

A case of rhizomelic chondrodysplasia punctata was investigated with MR imaging of the brain and hydrogen-1 MR spectroscopy of the brain and blood. Areas with abnormal signal hyperintensity on T2-weighted images or hypointensity on T1-weighted images were detected in the subcortical white matter. MR spectroscopy of the brain showed that normal-appearing white matter was characterized by increased levels of mobile lipids and myo-inositol, reduced levels of choline, and the presence of acetate. The importance of these metabolic anomalies is correlated to the deficiency in plasmalogen biosynthesis.

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Year:  2002        PMID： 11901023      PMCID： PMC7975319     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


  19 in total

Review 1.  Peroxisomal disorders: clinical, biochemical, and molecular aspects.

Authors:  R J Wanders
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

Review 2.  Clinical tools for the 90s: magnetic resonance spectroscopy and metabolite imaging.

Authors:  B Ross; R Kreis; T Ernst
Journal:  Eur J Radiol       Date:  1992 Mar-Apr       Impact factor: 3.528

3.  Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders.

Authors:  H Bruhn; B Kruse; G C Korenke; F Hanefeld; W Hänicke; K D Merboldt; J Frahm
Journal:  J Comput Assist Tomogr       Date:  1992 May-Jun       Impact factor: 1.826

4.  Fatty acid oxidation and ketogenesis by astrocytes in primary culture.

Authors:  N Auestad; R A Korsak; J W Morrow; J Edmond
Journal:  J Neurochem       Date:  1991-04       Impact factor: 5.372

Review 5.  Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.

Authors:  J M Powers; H W Moser
Journal:  Brain Pathol       Date:  1998-01       Impact factor: 6.508

Review 6.  Magnetic resonance techniques in the evaluation of the newborn brain.

Authors:  P S Hüppi; P D Barnes
Journal:  Clin Perinatol       Date:  1997-09       Impact factor: 3.430

7.  Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy.

Authors:  W Grodd; I Krägeloh-Mann; U Klose; R Sauter
Journal:  Radiology       Date:  1991-10       Impact factor: 11.105

8.  Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy.

Authors:  S Confort-Gouny; J Vion-Dury; B Chabrol; F Nicoli; P J Cozzone
Journal:  Neuroradiology       Date:  1995-10       Impact factor: 2.804

9.  Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata.

Authors:  W B Rizzo; D A Craft; L L Judd; H W Moser; A B Moser
Journal:  Biochem Med Metab Biol       Date:  1993-08

10.  Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy.

Authors:  P J Pouwels; B Kruse; G C Korenke; X Mao; F A Hanefeld; J Frahm
Journal:  Neuropediatrics       Date:  1998-10       Impact factor: 1.947
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  10 in total

1.  A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.

Authors:  Yasuhiko Tachibana; Noriko Aida; Keisuke Enomoto; Mizue Iai; Kenji Kurosawa
Journal:  Pediatr Radiol       Date:  2011-06-29

2.  MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.

Authors:  Michèl A A P Willemsen; Marinette Van Der Graaf; Marjo S Van Der Knaap; Arend Heerschap; Peter H M F Van Domburg; Fons J M Gabreëls; Jan J Rotteveel
Journal:  AJNR Am J Neuroradiol       Date:  2004-04       Impact factor: 3.825

3.  Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients.

Authors:  S Weller; H Rosewich; J Gärtner
Journal:  J Inherit Metab Dis       Date:  2008-04-14       Impact factor: 4.982

4.  Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.

Authors:  Carlos R Ferreira; Molly H Silber; Taeun Chang; Jonathan G Murnick; Brian Kirmse
Journal:  JIMD Rep       Date:  2015-11-05

Review 5.  From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system.

Authors:  Fabian Dorninger; Sonja Forss-Petter; Johannes Berger
Journal:  FEBS Lett       Date:  2017-09-07       Impact factor: 4.124

6.  Peroxisome deficiency but not the defect in ether lipid synthesis causes activation of the innate immune system and axonal loss in the central nervous system.

Authors:  Astrid Bottelbergs; Simon Verheijden; Paul P Van Veldhoven; Wilhelm Just; Rita Devos; Myriam Baes
Journal:  J Neuroinflammation       Date:  2012-03-29       Impact factor: 8.322

Review 7.  Peroxisomes in brain development and function.

Authors:  Johannes Berger; Fabian Dorninger; Sonja Forss-Petter; Markus Kunze
Journal:  Biochim Biophys Acta       Date:  2015-12-11

8.  Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging.

Authors:  L M Leijser; L S de Vries; M A Rutherford; A Y Manzur; F Groenendaal; T J de Koning; M van der Heide-Jalving; F M Cowan
Journal:  AJNR Am J Neuroradiol       Date:  2007-08       Impact factor: 3.825

9.  Inflammatory multiple-sclerosis plaques generate characteristic metabolic profiles in cerebrospinal fluid.

Authors:  Norbert W Lutz; Angèle Viola; Irina Malikova; Sylviane Confort-Gouny; Bertrand Audoin; Jean-Philippe Ranjeva; Jean Pelletier; Patrick J Cozzone
Journal:  PLoS One       Date:  2007-07-04       Impact factor: 3.240

10.  Peroxisome biogenesis disorders.

Authors:  Catherine Argyriou; Maria Daniela D'Agostino; Nancy Braverman
Journal:  Transl Sci Rare Dis       Date:  2016-11-07
  10 in total

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