Literature DB >> 20150306

MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis.

E K Embiruçu1, M C G Otaduy, A K Taneja, C C Leite, Fernando Kok, L T Lucato.   

Abstract

CTX is a rare lipid-storage disease. Novel MRS findings from 3 patients, using a short TE, were the presence of lipid peaks at 0.9 and 1.3 ppm in the depth of the cerebellar hemisphere; this might represent an additional marker of disease that is CNS-specific and noninvasive. A decrease in NAA concentration was also detected and attributed to neuroaxonal damage. One patient presented an increase in mIns concentration, pointing to gliosis and astrocytic proliferation.

Entities:  

Mesh:

Substances:

Year:  2010        PMID: 20150306      PMCID: PMC7965476          DOI: 10.3174/ajnr.A1885

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


  11 in total

Review 1.  Proton MR spectroscopy of the brain.

Authors:  S R Maheshwari; G M Fatterpekar; M Castillo; S K Mukherji
Journal:  Semin Ultrasound CT MR       Date:  2000-12       Impact factor: 1.875

2.  Cerebrotendinous xanthomatosis: neuropathological findings.

Authors:  B Pilo de la Fuente; I Ruiz; A Lopez de Munain; A Jimenez-Escrig
Journal:  J Neurol       Date:  2008-05-06       Impact factor: 4.849

3.  Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

Authors:  A Verrips; L H Hoefsloot; G C Steenbergen; J P Theelen; R A Wevers; F J Gabreëls; B G van Engelen; L P van den Heuvel
Journal:  Brain       Date:  2000-05       Impact factor: 13.501

4.  Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.

Authors:  N De Stefano; M T Dotti; M Mortilla; A Federico
Journal:  Brain       Date:  2001-01       Impact factor: 13.501

5.  Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.

Authors:  F Barkhof; A Verrips; P Wesseling; M S van Der Knaap; B G van Engelen; F J Gabreëls; A Keyser; R A Wevers; J Valk
Journal:  Radiology       Date:  2000-12       Impact factor: 11.105

6.  Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy.

Authors:  Marlies Oostendorp; Udo F H Engelke; Michèl A A P Willemsen; Ron A Wevers
Journal:  Clin Chem       Date:  2006-05-18       Impact factor: 8.327

Review 7.  Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.

Authors:  Antonio Federico; Maria Teresa Dotti
Journal:  J Child Neurol       Date:  2003-09       Impact factor: 1.987

8.  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

9.  Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.

Authors:  Vladimir M Berginer; Bella Gross; Khayat Morad; Nechama Kfir; Siman Morkos; Salameh Aaref; Tzipora C Falik-Zaccai
Journal:  Pediatrics       Date:  2009-01       Impact factor: 7.124

10.  Estimation of metabolite concentrations from localized in vivo proton NMR spectra.

Authors:  S W Provencher
Journal:  Magn Reson Med       Date:  1993-12       Impact factor: 4.668

View more
  6 in total

Review 1.  Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.

Authors:  Stuart Currie; Marios Hadjivassiliou; Ian J Craven; Iain D Wilkinson; Paul D Griffiths; Nigel Hoggard
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

2.  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

3.  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 4.  Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).

Authors:  Gerald Salen; Robert D Steiner
Journal:  J Inherit Metab Dis       Date:  2017-10-04       Impact factor: 4.982

Review 5.  Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.

Authors:  Shuke Nie; Guiqin Chen; Xuebing Cao; Yunjian Zhang
Journal:  Orphanet J Rare Dis       Date:  2014-11-26       Impact factor: 4.123

6.  Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.

Authors:  Shingo Koyama; Yoshiki Sekijima; Masatsune Ogura; Mika Hori; Kota Matsuki; Takashi Miida; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-08       Impact factor: 4.928

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.