Literature DB >> 2303834

Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).

M Fiorelli1, V Di Piero, S Bastianello, L Bozzao, A Federico.   

Abstract

We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 2303834      PMCID： PMC1014102          DOI： 10.1136/jnnp.53.1.76

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  8 in total

1.  MR imaging of epidermoid cysts.

Authors:  J Vion-Dury; F Vincentelli; M Jiddane; Y Van Bunnen; C Rumeau; F Grisoli; G Salamon
Journal:  Neuroradiology       Date:  1987       Impact factor: 2.804

2.  Cerebrotendinous xanthomatosis. Clinical and pathological studies.

Authors:  J R Schimschock; E C Alvord; P D Swanson
Journal:  Arch Neurol       Date:  1968-06

3.  Magnetic resonance imaging in cerebrotendinous xanthomatosis.

Authors:  P D Swanson; L D Cromwell
Journal:  Neurology       Date:  1986-01       Impact factor: 9.910

4.  Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.

Authors:  T A Pedley; R G Emerson; C L Warner; L P Rowland; G Salen
Journal:  Ann Neurol       Date:  1985-10       Impact factor: 10.422

5.  Computed tomography in cerebrotendinous xanthomatosis.

Authors:  V M Berginer; J Berginer; G Salen; S Shefer; R D Zimmerman
Journal:  Neurology       Date:  1981-11       Impact factor: 9.910

6.  Cerebrotendinous xanthomatosis: clinical and laboratory study of 2 cases.

Authors:  H M Canelas; E C Quintão; M Scaff; K S Vasconcelos; M W Brotto
Journal:  Acta Neurol Scand       Date:  1983-05       Impact factor: 3.209

7.  Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.

Authors:  V M Berginer; G Salen; S Shefer
Journal:  N Engl J Med       Date:  1984-12-27       Impact factor: 91.245

8.  Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in The Netherlands.

Authors:  R J Waterreus; B J Koopman; B G Wolthers; H J Oosterhuis
Journal:  Clin Neurol Neurosurg       Date:  1987       Impact factor: 1.876
  8 in total
  5 in total

1.  'Hot cross bun' sign in a case of cerebrotendinous xanthomatosis: a rare neuroimaging observation.

Authors:  Rajendra Singh Jain; Raghavendra Bakki Sannegowda; Amit Agrawal; Deepika Hemrajani; Rahul Jain; Tarun Mathur
Journal:  BMJ Case Rep       Date:  2013-02-14

2.  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

3.  Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.

Authors:  N Wakamatsu; M Hayashi; H Kawai; H Kondo; Y Gotoda; Y Nishida; R Kondo; S Tsuji; T Matsumoto
Journal:  J Neurol Neurosurg Psychiatry       Date:  1999-08       Impact factor: 10.154

4.  The MR spectrum of peroxisomal disorders.

Authors:  M S van der Knaap; J Valk
Journal:  Neuroradiology       Date:  1991       Impact factor: 2.804

5.  Cerebrotendinous xanthomatosis: cranial CT and MRI studies in eight patients.

Authors:  Y Hokezu; M Kuriyama; R Kubota; M Nakagawa; J Fujiyama; M Osame
Journal:  Neuroradiology       Date:  1992       Impact factor: 2.804
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.