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Literature DB >> 7133337

Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.

M G Smits, F J Gabreëls, W O Renier, E M Joosten, A A Gabreëls-Festen, H J ter Laak, A J Pinckers, G C Hombergen, S L Notermans, H O Thijssen.

Abstract

Three siblings with Cockayne's syndrome are reported. Sural nerve biopsies revealed segmental de- and remyelination with onion-bulb formation. Disturbed visual and brain-stem auditory evoked responses indicated demyelination of the central nervous system. The peripheral and central myelinopathy increased with age, suggesting a progressive disorder. Our observations support the theory of Cockayne's syndrome being a leukodystrophy.

Entities: Disease Species

Mesh：

Year: 1982 PMID： 7133337 DOI： 10.1055/s-2008-1059617

Source DB: PubMed Journal: Neuropediatrics ISSN： 0174-304X Impact factor: 1.947

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Cited

8 in total

1. Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.

Authors: J Jaeken; H Klocker; H Schwaiger; R Bellmann; M Hirsch-Kauffmann; M Schweiger
Journal: Hum Genet Date: 1989-11 Impact factor: 4.132

2. Peripheral neuropathy in Cockayne syndrome.

Authors: A Schenone; S Rolando; M Ferrari; P Romagnoli; M Tabaton; G L Mancardi
Journal: Ital J Neurol Sci Date: 1986-08

3. Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.

Authors: P A Battistella; A Peserico
Journal: Childs Nerv Syst Date: 1996-02 Impact factor: 1.475

4. 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

5. Autosomal dominant idiopathic hypoparathyroidism and nervous system dysfunction: report of three cases and review of the literature.

Authors: M Smits; F Gabreëls; P Froeling; H Thijssen; E Colon; B ter Haar; C Ruland; R Lam
Journal: J Neurol Date: 1982 Impact factor: 4.849

Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.

1. Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.

2. Peripheral neuropathy in Cockayne syndrome.

3. Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.

4. MRI in Cockayne syndrome type I.

5. Autosomal dominant idiopathic hypoparathyroidism and nervous system dysfunction: report of three cases and review of the literature.

6. Distinctive skeletal dysplasia in Cockayne syndrome.

7. The neuropathy of Cockayne syndrome.

Review 8. Molecular mechanisms of inherited demyelinating neuropathies.