Cited by 146Metabolism and Genetic DisordersHereditary Neurological DisordersNeurological diseases and metabolism

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy

Open access
Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D. +3 more·2006·The American Journal of Human Genetics

Abstract

In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. Metabolite analyses of plasma revealed an accumulation of the branched-chain fatty acid pristanic acid, and abnormal bile alcohol glucuronides were excreted in urine. In cultured skin fibroblasts, the thiolytic activity of SCPx was deficient, and no SCPx protein could be detected by western blotting. Mutation analysis revealed a homozygous 1-nucleotide insertion, 545_546insA, leading to a frameshift and premature stop codon (I184fsX7).

Integrity signals

Registry

Crossref · 10.1086/503921

Cites

20 of 20 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Only for SCPx, the thiolase required for breakdown of branched-chain fatty acids, a single patient with deficiency has been described.

    “However, only for SCPx, the thiolase required for the breakdown of branched-chain fatty acids, a single patient with a deficiency of the enzyme (MIM #613724) has been described so far [102].”

    From Peroxisomes in brain development and function (2016) · cites this paper as [102]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D., Wanders, R. J. A., Duran, M., & Marziniak, M.
Affiliations
  • Amsterdam UMC Location University of Amsterdam (NL)
  • Saarland University (DE)
  • Heidelberg University (DE)
Corresponding author
Ferdinandusse, S.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2006-06
Volume
78
Issue
6
Pages
1046-1052
ISSN
0002-9297 (ISSN-L)
OpenAlex
W2136674380
Cited by
145
References
20
Citations by year
2026: 3 · 2025: 4 · 2024: 8 · 2023: 3 · 2022: 11 · 2021: 7 · 2020: 7 · 2019: 10 · 2018: 8 · 2017: 7 · 2016: 13 · 2015: 11 · 2014: 7 · 2013: 7 · 2012: 6
FWCI
5.33
Type
journal article
Language
en
Open access
Locations
  • The American Journal of Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • UCLA - Biblioteca de Ciencias de la Salud (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • Pure Amsterdam UMC (submittedVersion)
Funders
Nederlandse Organisatie voor Wetenschappelijk Onderzoek (916.46.109)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords
dystonia, motor neuropathy, torticollis, frameshift mutation, peroxisomal disorders, azoospermia, hyposmia
MeSH terms
Adult, Carrier Proteins, Dystonia, Fatty Acids, Humans, Magnetic Resonance Imaging, Male, Polyneuropathies, Pons, Syndrome, Thalamus, Torticollis, Dementia, Vascular, Frameshift Mutation, Codon, Nonsense, Glucuronides

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review