Literature DB >> 2538572

Adrenoleukodystrophy: heterogeneity in two brothers.

G M Elrington1, D E Bateman, M J Jeffrey, N F Lawton.   

Abstract

A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis and nomenclature.

Entities:  

Mesh：

Year:  1989        PMID： 2538572      PMCID： PMC1032401          DOI： 10.1136/jnnp.52.3.310

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


  8 in total

1.  Adrenoleukodystrophy in a mother and son.

Authors:  R H Simpson; J Rodda; C J Reinecke
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-09       Impact factor: 10.154

2.  Adrenoleukodystrophy. A clinical and pathological study of 17 cases.

Authors:  H H Schaumburg; J M Powers; C S Raine; K Suzuki; E P Richardson
Journal:  Arch Neurol       Date:  1975-09

3.  Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects.

Authors:  J W Griffin; E Goren; H Schaumburg; W K Engel; L Loriaux
Journal:  Neurology       Date:  1977-12       Impact factor: 9.910

4.  Late onset adrenomyeloneuropathy.

Authors:  W J Jeffcoate; D McGivern; R E Cotton; G R Hopkinson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-09       Impact factor: 10.154

5.  Schizophreniform psychosis and adrenomyeloneuropathy.

Authors:  A C James; P Kaplan; A Lees; J J Bradley
Journal:  J R Soc Med       Date:  1984-10       Impact factor: 5.344

6.  The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma.

Authors:  P Aubourg; O Robain; F Rocchiccioli; S Dancea; J Scotto
Journal:  J Neurol Sci       Date:  1985 May-Jun       Impact factor: 3.181

7.  Adrenoleukodystrophy: clinical, pathological and biochemical findings in two brothers with the onset of cerebral disease in adult life.

Authors:  M M Esiri; N M Hyman; W L Horton; R H Lindenbaum
Journal:  Neuropathol Appl Neurobiol       Date:  1984 Nov-Dec       Impact factor: 8.090

8.  Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.

Authors:  H W Moser; A E Moser; I Singh; B P O'Neill
Journal:  Ann Neurol       Date:  1984-12       Impact factor: 10.422
  8 in total
  3 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.  Nerve conduction studies in adrenomyeloneuropathy.

Authors:  V Chaudhry; H W Moser; D R Cornblath
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-08       Impact factor: 10.154

Review 3.  Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.

Authors:  Shruti V Palakuzhiyil; Rita Christopher; Sadanandavalli Retnaswami Chandra
Journal:  World J Biol Chem       Date:  2020-11-27
  3 in total

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