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Cited by 263Hereditary Neurological DisordersMetabolism and Genetic DisordersNeurological diseases and metabolism

The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.

Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Ferdinandusse, Sacha, Denis, Simone, Clayton, Peter T., Graham, Andrew, Rees, John E., Allen, John T., McLean, Brendan N., Brown, Ann Y., Vreken, Peter, Waterham, Hans R., Wanders, Ronald J.A.·2000·Nature Genetics
DOI 10.1038/72861
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Abstract

Sensory motor neuropathy is associated with various inherited disorders including Charcot-Marie-Tooth disease, X-linked adrenoleukodystrophy/adrenomyeloneuropathy and Refsum disease. In the latter two, the neuropathy is thought to result from the accumulation of specific fatty acids. We describe here three patients with elevated plasma concentrations of pristanic acid (a branched-chain fatty acid) and C27-bile-acid intermediates. Two of the patients suffered from adult-onset sensory motor neuropathy. One patient also had pigmentary retinopathy, suggesting Refsum disease, whereas the other patient had upper motor neuron signs in the legs, suggesting adrenomyeloneuropathy. The third patient was a child without neuropathy. In all three patients we discovered a deficiency of alpha-methylacyl-CoA racemase (AMACR). This enzyme is responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers, which are the only stereoisomers that can be degraded via peroxisomal beta-oxidation. Sequence analysis of AMACR cDNA from the patients identified two different mutations that are likely to cause disease, based on analysis in Escherichia coli. Our findings have implications for the diagnosis of adult-onset neuropathies of unknown aetiology.

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  1. Steinberg, D. Refsum disease. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2351–2369 (McGraw-Hill, New York, 1995).

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Metadata

Authors
Ferdinandusse, S., Denis, S., Clayton, P. T., Graham, A., Rees, J. E., Allen, J. T., McLean, B. N., Brown, A. Y., Vreken, P., Waterham, H. R., & Wanders, R. J. A.
Affiliations
  • Amsterdam UMC Location University of Amsterdam (NL)
  • Princess Royal Hospital (GB)
  • Southmead Hospital (GB)
  • Royal Cornwall Hospital (GB)
Corresponding author
Wanders, Ronald J.A.
ORCID
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2000-02
Volume
24
Issue
2
Pages
188-191
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/72861
OpenAlex
W1971365801
Cited by
262
References
23
Citations by year
2026: 5 · 2025: 8 · 2024: 13 · 2023: 6 · 2022: 6 · 2021: 8 · 2020: 11 · 2019: 5 · 2018: 10 · 2017: 10 · 2016: 6 · 2015: 6 · 2014: 14 · 2013: 13 · 2012: 9
FWCI
4.88
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • Pure Amsterdam UMC (submittedVersion)
Topics
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords
AMACR, Refsum disease, adrenomyeloneuropathy, pristanic acid, branched-chain fatty acids, peroxisomal beta-oxidation, pigmentary retinopathy, Charcot-Marie-Tooth disease, upper motor neuron signs, peroxisomal disorders
MeSH terms
Adult, Amino Acid Sequence, Animals, Cloning, Molecular, Escherichia coli, Female, Humans, Infant, Male, Middle Aged, Molecular Sequence Data, Recombinant Proteins, Hereditary Sensory and Motor Neuropathy, Sequence Alignment, Point Mutation, Sequence Homology, Amino Acid, Age of Onset, Amino Acid Substitution, Racemases and Epimerases, Peroxisomes, Mice, Rats

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