The DOI matches its Crossref record.
DJ‐1 mutations and parkinsonism‐dementia‐amyotrophic lateral sclerosis complex
Abstract
DJ‐1 gene mutations have been found to cause early‐onset Parkinson's disease. We report a family from southern Italy with three brothers affected by early‐onset parkinsonism, dementia, and amyotrophic lateral sclerosis. Molecular analysis of the DJ‐1 gene in two living patients showed a novel homozygous mutation in exon 7 (E163K) and a new homozygous mutation (g.168_185dup) in the promoter region of the gene. Both mutations cosegregated with the disease and were detected in a heterozygous state in the patients' mother and their healthy siblings. Our findings expand the spectrum of clinical presentations associated with mutations in DJ‐1 gene. Ann Neurol 2005;58:803–807
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
Cited by
Advances in the genetics of Parkinson disease
Trinh, J., & Farrer, M. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.132 · Cited by 466
Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues
Logroscino, G., Traynor, B. J., Hardiman, O., Chio', A., Couratier, P., Mitchell, J. D., Swingler, R. J., Beghi, E., & EURALS, F. (2008) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2006.104828 · Cited by 448
Clinical Approach to Parkinson's Disease: Features, Diagnosis, and Principles of Management
Massano, J., & Bhatia, K. P. (2012) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a008870 · Cited by 422
The neurobiological basis of cognitive impairment in Parkinson's disease
Halliday, G. M., Leverenz, J. B., Schneider, J. S., & Adler, C. H. (2014) · Movement Disorders · doi:10.1002/mds.25857 · Cited by 366
DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders
Kahle, P. J., Waak, J., & Gasser, T. (2009) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2009.08.003 · Cited by 324
Metadata
- Authors
- Annesi, G., Savettieri, G., Pugliese, P., D'Amelio, M., Tarantino, P., Ragonese, P., La Bella, V., Piccoli, T., Civitelli, D., Annesi, F., Fierro, B., Piccoli, F., Arabia, G., Caracciolo, M., Cirò Candiano, I. C., & Quattrone, A.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2005-10-20
- Volume
- 58
- Issue
- 5
- Pages
- 803-807
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W1980364385
- Cited by
- 173
- References
- 0
- FWCI
- 5.85
- 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: DJ‐1 mutations and parkinsonism‐dementia‐amyotrophic lateral sclerosis complex. https://app.cochat.ai/papers/10.1002/ana.20666
- The paper
- Annesi, G., Savettieri, G., Pugliese, P., D'Amelio, M., Tarantino, P., Ragonese, P., La Bella, V., Piccoli, T., Civitelli, D., Annesi, F., Fierro, B., Piccoli, F., Arabia, G., Caracciolo, M., Cirò Candiano, I. C., & Quattrone, A. (2005). DJ‐1 mutations and parkinsonism‐dementia‐amyotrophic lateral sclerosis complex. Annals of Neurology. https://doi.org/10.1002/ana.20666
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.
