Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
Peroxisomal acyl-coenzyme A oxidase deficiency (formerly also called pseudoneonatal adrenoleucodystrophy) is a disorder of peroxisomal fatty acid oxidation with a severe presentation.
Most patients present at birth or in early infancy, and the mean age of death was 5 years in a recently published cohort of 22 patients.
Brain imaging shows a progressive leucodystrophy. The authors report here the first adult patients (two siblings, 52 and 55 years old) with peroxisomal acyl-coenzyme A oxidase deficiency with a remarkably mild clinical presentation. Magnetic resonance brain imaging revealed profound atrophy of the brainstem and cerebellum.
310-312
Ferdinandusse, Sacha
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Barker, Simon
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Lachlan, Katherine
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Duran, Marinus
0453cc9d-cfe8-4654-a6ee-0ee4aa155f6d
Waterham, Hans R.
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Wanders, Ronald J. A.
704f98a6-da95-42b6-9ef7-60f7fe400510
Hammans, Simon
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March 2010
Ferdinandusse, Sacha
9ed81117-d9e5-4efe-8f5e-de32164c048e
Barker, Simon
4ec1e930-ec52-4154-a7aa-537ff4785607
Lachlan, Katherine
175ce889-ede8-477e-93eb-afefc1af5dda
Duran, Marinus
0453cc9d-cfe8-4654-a6ee-0ee4aa155f6d
Waterham, Hans R.
b52da95d-8507-4d75-a25e-a4d8c928405c
Wanders, Ronald J. A.
704f98a6-da95-42b6-9ef7-60f7fe400510
Hammans, Simon
6553eac5-9322-4f2b-b677-d4ba698fc10b
Ferdinandusse, Sacha, Barker, Simon, Lachlan, Katherine, Duran, Marinus, Waterham, Hans R., Wanders, Ronald J. A. and Hammans, Simon
(2010)
Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.
Journal of Neurology, Neurosurgery and Psychiatry, 81 (3), .
(doi:10.1136/jnnp.2009.176255).
Abstract
Peroxisomal acyl-coenzyme A oxidase deficiency (formerly also called pseudoneonatal adrenoleucodystrophy) is a disorder of peroxisomal fatty acid oxidation with a severe presentation.
Most patients present at birth or in early infancy, and the mean age of death was 5 years in a recently published cohort of 22 patients.
Brain imaging shows a progressive leucodystrophy. The authors report here the first adult patients (two siblings, 52 and 55 years old) with peroxisomal acyl-coenzyme A oxidase deficiency with a remarkably mild clinical presentation. Magnetic resonance brain imaging revealed profound atrophy of the brainstem and cerebellum.
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Published date: March 2010
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Local EPrints ID: 73671
URI: http://eprints.soton.ac.uk/id/eprint/73671
ISSN: 1468-330X
PURE UUID: 3f05173f-d772-4fe4-8583-1d8e8493dc4d
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Date deposited: 10 Mar 2010
Last modified: 13 Mar 2024 22:15
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Contributors
Author:
Sacha Ferdinandusse
Author:
Simon Barker
Author:
Katherine Lachlan
Author:
Marinus Duran
Author:
Hans R. Waterham
Author:
Ronald J. A. Wanders
Author:
Simon Hammans
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