Literature DB >> 1603308

Cranial CT and MRI in diseases with DNA repair defects.

P Demaerel1, B E Kendall, D Kingsley.   

Abstract

The CT and MRI appearances of 5 patients with Cockayne's syndrome, 5 with ataxia telangiectasia and 1 with Fanconi's anaemia are reported. These conditions, together with Bloom's syndrome and xeroderma pigmentosum are regarded as disorders of DNA repair. Characteristic CT and MRI features of Cockayne's syndrome include generalised atrophy, calcification in basal ganglia and dentate nuclei and white matter low density. Neuroradiological findings in the other DNA repair disorders are nonspecific.

Entities:  

Mesh：

Year:  1992        PMID： 1603308     DOI： 10.1007/bf00588156

Source DB:  PubMed          Journal:  Neuroradiology        ISSN： 0028-3940            Impact factor:   2.804


  16 in total

1.  Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity.

Authors:  D BLOOM
Journal:  AMA Am J Dis Child       Date:  1954-12

2.  High field MR imaging of the brain in pseudohypoparathyroidism.

Authors:  Y Araki; T Furukawa; K Tsuda; T Yamamoto; I Tsukaguchi
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

3.  Dwarfism with retinal atrophy and deafness.

Authors:  E A Cockayne
Journal:  Arch Dis Child       Date:  1936-02       Impact factor: 3.791

4.  EEG and CT abnormalities in xeroderma pigmentosum.

Authors:  T Mimaki; T Tagawa; J Tanaka; K Sato; H Yabuuchi
Journal:  Acta Neurol Scand       Date:  1989-08       Impact factor: 3.209

5.  Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.

Authors:  M A Patton; F Giannelli; A J Francis; M Baraitser; B Harding; A J Williams
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

6.  Cockayne syndrome.

Authors:  E D Levinson; A W Zimmerman; M L Grunnet; R A Lewis; T J Spackman
Journal:  J Comput Assist Tomogr       Date:  1982-12       Impact factor: 1.826

7.  CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome.

Authors:  D Talwar; S A Smith
Journal:  Am J Med Genet       Date:  1989-10

Review 8.  Cockayne syndrome: unusual neuropathological findings and review of the literature.

Authors:  D Soffer; H W Grotsky; I Rapin; K Suzuki
Journal:  Ann Neurol       Date:  1979-10       Impact factor: 10.422

9.  MRI in Cockayne syndrome type I.

Authors:  E Boltshauser; C Yalcinkaya; W Wichmann; F Reutter; A Prader; A Valavanis
Journal:  Neuroradiology       Date:  1989       Impact factor: 2.804

10.  Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset.

Authors:  H Nishio; S Kodama; T Matsuo; M Ichihashi; H Ito; Y Fujiwara
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982
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  11 in total

Review 1.  Radiological imaging in ataxia telangiectasia: a review.

Authors:  Ishani Sahama; Kate Sinclair; Kerstin Pannek; Martin Lavin; Stephen Rose
Journal:  Cerebellum       Date:  2014-08       Impact factor: 3.847

2.  A Rare Case of Cockayne Syndrome-MRI Features.

Authors:  Praveen Mundaganur
Journal:  J Clin Diagn Res       Date:  2012-11

3.  Neuroimaging in Cockayne syndrome.

Authors:  M Koob; V Laugel; M Durand; H Fothergill; C Dalloz; F Sauvanaud; H Dollfus; I J Namer; J-L Dietemann
Journal:  AJNR Am J Neuroradiol       Date:  2010-06-03       Impact factor: 3.825

4.  Proton spectroscopy and imaging at 3T in ataxia-telangiectasia.

Authors:  L I Wallis; P D Griffiths; S J Ritchie; C A J Romanowski; G Darwent; I D Wilkinson
Journal:  AJNR Am J Neuroradiol       Date:  2007-01       Impact factor: 3.825

Review 5.  Cockayne syndrome: Clinical features, model systems and pathways.

Authors:  Ajoy C Karikkineth; Morten Scheibye-Knudsen; Elayne Fivenson; Deborah L Croteau; Vilhelm A Bohr
Journal:  Ageing Res Rev       Date:  2016-08-06       Impact factor: 10.895

6.  Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

Authors:  R Saunders-Pullman; D Raymond; A J Stoessl; D Hobson; K Nakamura; T Nakamura; S Pullman; D Lefton; M S Okun; R Uitti; R Sachdev; K Stanley; M San Luciano; J Hagenah; R Gatti; L J Ozelius; S B Bressman
Journal:  Neurology       Date:  2012-02-15       Impact factor: 9.910

7.  Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.

Authors:  Matthias Kieslich; Franziska Hoche; Janine Reichenbach; Stefan Weidauer; Luciana Porto; Stefan Vlaho; Ralf Schubert; Stefan Zielen
Journal:  Cerebellum       Date:  2010-06       Impact factor: 3.847

Review 8.  Inborn errors and demyelination: MRI and the diagnosis of white matter disease.

Authors:  B E Kendall
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation.

Authors:  Harvey Perez; May F Abdallah; Jose I Chavira; Angelina S Norris; Martin T Egeland; Karen L Vo; Callan L Buechsenschuetz; Valentina Sanghez; Jeannie L Kim; Molly Pind; Kotoka Nakamura; Geoffrey G Hicks; Richard A Gatti; Joaquin Madrenas; Michelina Iacovino; Peter J McKinnon; Paul J Mathews
Journal:  Elife       Date:  2021-11-01       Impact factor: 8.713

10.  Trichothiodystrophy with dysmyelination and central osteosclerosis.

Authors:  J H Harreld; E C Smith; N S Prose; P K Puri; D P Barboriak
Journal:  AJNR Am J Neuroradiol       Date:  2010-01       Impact factor: 4.966
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