Literature DB >> 6249605

Adrenomyeloneuropathy and adrenoleukodystrophy in two brothers.

J J Martin, B Dompas, C Ceuterick, K Jacobs.   

Abstract

A 19-year-old patient presented with spastic paraparesis and peripheral neuropathy without clinical or biochemical signs of adrenal insufficiency. The diagnosis of adrenomyeloneuropathy was supported by typical ultrastructural findings in peripheral nerve and endomysial nerve bundles and by a positive family history. Indeed his younger brother died at age 12 from a demyelinating disease of the central nervous system. Cutaneous nerve bundles and postmortem examination limited to the brain demonstrated features specific for adrenoleukodystrophy. The various features of both disorders are discussed. Their occurrence in the same sibship pleads strongly for a very close relationship.

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Mesh:

Year:  1980        PMID: 6249605     DOI: 10.1159/000115163

Source DB:  PubMed          Journal:  Eur Neurol        ISSN: 0014-3022            Impact factor:   1.710


  6 in total

Review 1.  X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

Authors:  B M van Geel; J Assies; R J Wanders; P G Barth
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-07       Impact factor: 10.154

2.  Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder.

Authors:  A Federico; M T Dotti; P Annunziata; U Bonuccelli; G Fenzi; G Ciacci; A Malandrini; G Meucci; G C Guazzi
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Adrenomyeloneuropathy. A report on two families.

Authors:  J J Martin; A Lowenthal; C Ceuterick; H Gacoms
Journal:  J Neurol       Date:  1982       Impact factor: 4.849

4.  Adrenoleukodystrophy in an adult female. A clinical, morphological, and neurochemical study.

Authors:  W Schlote; B Molzer; J Peiffer; M Poremba; F Schumm; K Harzer; R Schnabel; H Bernheimer
Journal:  J Neurol       Date:  1987-10       Impact factor: 4.849

5.  Adrenomyeloneuropathy: report of a family and electron microscopical findings in peripheral nerve.

Authors:  K Tanaka; A Koyama; R Koike; T Ohno; T Atsumi; T Miyatake
Journal:  J Neurol       Date:  1985       Impact factor: 4.849

6.  Modeling and rescue of defective blood-brain barrier function of induced brain microvascular endothelial cells from childhood cerebral adrenoleukodystrophy patients.

Authors:  Catherine A A Lee; Hannah S Seo; Anibal G Armien; Frank S Bates; Jakub Tolar; Samira M Azarin
Journal:  Fluids Barriers CNS       Date:  2018-04-04
  6 in total

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