Literature DB >> 18941723

Leukoencephalopathies and metabolic diseases.

Antonio Giorgio1, Nicola De Stefano.   

Abstract

Leukoencephalopathies and metabolic diseases comprise a great number of heterogeneous disorders. Diagnosis of these disorders may be challenging at times, requiring sophisticated laboratory investigations. Magnetic resonance imaging (MRI) is useful in supporting diagnosis even though it bears problems of specificity. Quantitative MRI techniques, providing information on cerebral metabolites and tissue microstructure within and outside visible lesions, have proven to be important for understanding the pathogenic mechanisms leading to tissue damage and monitoring disease evolution and response to treatment. This has prompted a more extensive use of these techniques in the clinical setting as a complement to the traditional MRI.

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Year:  2008        PMID: 18941723     DOI: 10.1007/s10072-008-1008-0

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  15 in total

Review 1.  Quantitative analysis of diffusion tensor imaging data in serial assessment of Krabbe disease.

Authors:  James M Provenzale; Maria Escolar; Joanne Kurtzberg
Journal:  Ann N Y Acad Sci       Date:  2005-12       Impact factor: 5.691

2.  Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study.

Authors:  N De Stefano; P Balestri; M T Dotti; S Grosso; M Mortilla; G Morgese; A Federico
Journal:  J Neurol       Date:  2001-05       Impact factor: 4.849

3.  A new leukoencephalopathy with vanishing white matter.

Authors:  M S van der Knaap; P G Barth; F J Gabreëls; E Franzoni; J H Begeer; H Stroink; J J Rotteveel; J Valk
Journal:  Neurology       Date:  1997-04       Impact factor: 9.910

4.  Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy?

Authors:  E Martin; A Capone; J Schneider; J Hennig; T Thiel
Journal:  Ann Neurol       Date:  2001-04       Impact factor: 10.422

Review 5.  Creatine deficiency syndromes.

Authors:  Andreas Schulze
Journal:  Mol Cell Biochem       Date:  2003-02       Impact factor: 3.396

6.  Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy.

Authors:  Prachi Dubey; Ali Fatemi; Hao Huang; Lidia Nagae-Poetscher; Setsu Wakana; Peter B Barker; Peter van Zijl; Hugo W Moser; Susumu Mori; Gerald V Raymond
Journal:  Ann Neurol       Date:  2005-11       Impact factor: 10.422

7.  Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy.

Authors:  S Marino; M De Luca; M T Dotti; M L Stromillo; P Formichi; P Galluzzi; M Mondelli; P Bramanti; A Federico; N De Stefano
Journal:  Neurology       Date:  2007-09-18       Impact factor: 9.910

8.  In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy.

Authors:  W Grodd; I Krägeloh-Mann; D Petersen; F K Trefz; K Harzer
Journal:  Lancet       Date:  1990-08-18       Impact factor: 79.321

9.  Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin.

Authors:  M Sylvain; D L Arnold; C R Scriver; R Schreiber; M I Shevell
Journal:  Pediatr Neurol       Date:  1994-05       Impact factor: 3.372

Review 10.  Dysmyelinating and demyelinating conditions in infancy.

Authors:  E H Kolodny
Journal:  Curr Opin Neurol Neurosurg       Date:  1993-06
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  2 in total

1.  A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.

Authors:  Feyza Nur Tuncer; Sibel Aylin Ugur Iseri; Zuhal Yapici; Mahmut Demir; Meryem Karaca; Mustafa Calik
Journal:  Neurol Sci       Date:  2018-09-12       Impact factor: 3.307

2.  Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease.

Authors:  Xiaoli Zhang; Guohui Niu; Panpan Song; Lijun Wang; Rui Han; Manman Chu; Qiliang Guo; Zhao Xu; Lihong Yan; Tianming Jia
Journal:  Transl Pediatr       Date:  2021-10
  2 in total

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