Literature DB >> 8195796

Magnetic resonance imaging in cerebrotendinous xanthomatosis: a prospective clinical and neuroradiological study.

V M Berginer1, J Berginer, A D Korczyn, R Tadmor.   

Abstract

We describe MRI findings in 13 persons with typical clinical, EEG, CT and biochemical features of cerebrotendinous xanthomatosis (CTX). MRI showed brain (13/13) and cerebellar (12/13) atrophy and diffuse white matter hypodensity (4/13) presumably reflecting sterol infiltration with demyelination. Focal lesions were rare (2/13). Mass effect, edema or enhancement were not observed. Treatment with chenodeoxycholic acid (CDCA) 750 mg/day orally improved neurological and biochemical abnormalities. MRI appears to be of little value in following improvement after treatment has begun. Otherwise, the MRI studies are very sensitive and useful in diagnosing early incomplete forms of CTX.

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 8195796     DOI： 10.1016/0022-510x(94)90059-0

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  15 in total

1.  Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

Authors:  P T Clayton; A Verrips; E Sistermans; A Mann; G Mieli-Vergani; R Wevers
Journal:  J Inherit Metab Dis       Date:  2002-10       Impact factor: 4.982

2.  Cerebrotendinous xanthomatosis--the spectrum of imaging findings.

Authors:  Arunachalam Pudhiavan; Alka Agrawal; Sangit Chaudhari; Anil Shukla
Journal:  J Radiol Case Rep       Date:  2013-04-01

3.  Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

Authors:  Andrea Mignarri; Alessandro Magni; Marina Del Puppo; Gian Nicola Gallus; Ingemar Björkhem; Antonio Federico; Maria Teresa Dotti
Journal:  J Inherit Metab Dis       Date:  2015-07-08       Impact factor: 4.982

4.  Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report.

Authors:  H R Siebner; S Berndt; B Conrad
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-05       Impact factor: 10.154

Review 5.  Disorders of bile acid synthesis.

Authors:  Peter Theodore Clayton
Journal:  J Inherit Metab Dis       Date:  2011-01-13       Impact factor: 4.982

6.  Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27).

Authors:  S Sugama; A Kimura; W Chen; S Kubota; Y Seyama; N Taira; Y Eto
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

7.  The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.

Authors:  Andrea Mignarri; Maria Teresa Dotti; Antonio Federico; Nicola De Stefano; Marco Battaglini; Irene Grazzini; Paolo Galluzzi; Lucia Monti
Journal:  J Neurol       Date:  2017-03-21       Impact factor: 4.849

8.  Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.

Authors:  Maria Del Mar Amador; Marion Masingue; Rabab Debs; Foudil Lamari; Vincent Perlbarg; Emmanuel Roze; Bertrand Degos; Fanny Mochel
Journal:  J Inherit Metab Dis       Date:  2018-03-20       Impact factor: 4.982

Review 9.  The neuropsychiatry of inborn errors of metabolism.

Authors:  Mark Walterfang; Olivier Bonnot; Ramon Mocellin; Dennis Velakoulis
Journal:  J Inherit Metab Dis       Date:  2013-05-23       Impact factor: 4.982

10.  Quantification of brain damage in cerebrotendinous xanthomatosis with magnetization transfer MR imaging.

Authors:  Matilde Inglese; Nicola De Stefano; Elisabetta Pagani; Maria T Dotti; Giancarlo Comi; Antonio Federico; Massimo Filippi
Journal:  AJNR Am J Neuroradiol       Date:  2003-03       Impact factor: 3.825
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.