The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation
Abstract
Mutations in DJ‐1 have been linked to an autosomal recessive form of early‐onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ‐1 in 107 early‐onset (age at diagnosis up to 50 years) PD subjects. One subject had a frameshift mutation in the first coding exon and an exon 7 splice mutation both predicted to result in a loss of functional protein. This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ‐1 are a rare cause of early‐onset PD.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Parkinsonism: onset, progression, and mortality
Hoehn, M. M., & Yahr, M. D. (1967) · Neurology · doi:10.1212/wnl.17.5.427 · Cited by 12,107
Cited by
Mitophagy in human health, ageing and disease
Picca, A., Faitg, J., Auwerx, J., Ferrucci, L., & D’Amico, D. (2023) · Nature Metabolism · doi:10.1038/s42255-023-00930-8 · Cited by 635
Goldberg, M. S., Pisani, A., Haburcak, M., Vortherms, T. A., Kitada, T., Costa, C., Tong, Y., Martella, G., Tscherter, A., Martins, A., et al. (2005) · Neuron · doi:10.1016/j.neuron.2005.01.041 · Cited by 538
Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism
Schrag, A., & Schott, J. M. (2006) · The Lancet Neurology · doi:10.1016/s1474-4422(06)70411-2 · Cited by 384
Martinat, C., Shendelman, S., Jonason, A., Leete, T., Beal, M. F., Yang, L., Floss, T., & Abeliovich, A. (2004) · PLoS Biology · doi:10.1371/journal.pbio.0020327 · Cited by 364
Yokota, T., Sugawara, K., Ito, K., Takahashi, R., Ariga, H., & Mizusawa, H. (2003) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2003.11.056 · Cited by 356
Metadata
- Authors
- Hague, S., Rogaeva, E., Hernandez, D., Gulick, C., Singleton, A., Hanson, M., Johnson, J., Weiser, R., Gallardo, M., Ravina, B., Gwinn‐Hardy, K., Crawley, A., St. George‐Hyslop, P. H., Lang, A. E., Heutink, P., Bonifati, V., Hardy, J., & Singleton, A.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2003-07-25
- Volume
- 54
- Issue
- 2
- Pages
- 271-274
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W1977166619
- Cited by
- 237
- References
- 1
- FWCI
- 14.08
- Type
- journal article
- Language
- en
- Open access
- closed
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation. https://app.cochat.ai/papers/10.1002/ana.10663
- The paper
- Hague, S., Rogaeva, E., Hernandez, D., Gulick, C., Singleton, A., Hanson, M., Johnson, J., Weiser, R., Gallardo, M., Ravina, B., Gwinn‐Hardy, K., Crawley, A., St. George‐Hyslop, P. H., Lang, A. E., Heutink, P., Bonifati, V., Hardy, J., & Singleton, A. (2003). Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation. Annals of Neurology. https://doi.org/10.1002/ana.10663
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
