The DOI matches its Crossref record.
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
Abstract
The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated with executive function deficits and generalized brain atrophy. These individuals had elevated fragile X mental retardation 1 gene (FMR1) messenger RNA and normal or borderline levels of FMR1 protein. The authors propose that elevations of FMR1 messenger RNA may be causative for a neurodegenerative syndrome in a subgroup of elderly men with the FMR1 premutation.
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
DNA methylation and human disease
Robertson, K. D. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1655 · Cited by 2,864
Neumann, H. P. H. (2004) · JAMA · doi:10.1001/jama.292.8.943 · Cited by 893
Tandem repeats mediating genetic plasticity in health and disease
Hannan, A. J. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.115 · Cited by 446
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Depienne, C., & Mandel, J.-L. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.011 · Cited by 429
Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S. L., & Warren, S. T. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.007 · Cited by 436
FARZIN, F., PERRY, H., HESSL, D., LOESCH, D., COHEN, J., BACALMAN, S., GANE, L., TASSONE, F., HAGERMAN, P., & HAGERMAN, R. (2006) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200604002-00012 · Cited by 325
Self-citationFragile X and autism: intertwined at the molecular level leading to targeted treatments
Hagerman, R., Hoem, G., & Hagerman, P. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-12 · Cited by 247
Self-citationFernandez-Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P. J., & Tassone, F. (2009) · The Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2009.080173 · Cited by 204
Self-citationCGG repeat in the FMR1 gene: size matters
Willemsen, R., Levenga, J., & Oostra, B. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01723.x · Cited by 184
Lozano, R., Rosero, C. A., & Hagerman, R. J. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01022 · Cited by 186
Self-citationThe neuroanatomy and neuroendocrinology of fragile X syndrome
Hessl, D., Rivera, S. M., & Reiss, A. L. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20004 · Cited by 165
The emerging fragile X premutation phenotype: Evidence from the domain of social cognition
Cornish, K., Kogan, C., Turk, J., Manly, T., James, N., Mills, A., & Dalton, A. (2005) · Brain and Cognition · doi:10.1016/j.bandc.2004.08.020 · Cited by 148
Autism, Alzheimer disease, and fragile X
Sokol, D. K., Maloney, B., Long, J. M., Ray, B., & Lahiri, D. K. (2011) · Neurology · doi:10.1212/wnl.0b013e3182166dc7 · Cited by 141
Advances in understanding the molecular basis of FXTAS
Garcia-Arocena, D., & Hagerman, P. J. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq166 · Cited by 136
Self-citationTremor and ataxia in fragile X premutation carriers: Blinded videotape study
Berry‐Kravis, E., Lewin, F., Wuu, J., Leehey, M., Hagerman, R., Hagerman, P., & Goetz, C. G. (2003) · Annals of Neurology · doi:10.1002/ana.10522 · Cited by 109
Self-citationDevelopments in RNA Splicing and Disease
Poulos, M. G., Batra, R., Charizanis, K., & Swanson, M. S. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a000778 · Cited by 98
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations
Tabolacci, E., Moscato, U., Zalfa, F., Bagni, C., Chiurazzi, P., & Neri, G. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.130 · Cited by 91
FMR1 premutation and full mutation molecular mechanisms related to autism
Hagerman, R., Au, J., & Hagerman, P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9084-5 · Cited by 85
Self-citationDe Rubeis, S., Fernández, E., Buzzi, A., Di Marino, D., & Bagni, C. (2012) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-7091-0932-8_23 · Cited by 48
Schizophrenia is a later‐onset feature ofPCDH 19 Girls Clustering Epilepsy
Vlaskamp, D. R. M., Bassett, A. S., Sullivan, J. E., Robblee, J., Sadleir, L. G., Scheffer, I. E., & Andrade, D. M. (2019) · Epilepsia · doi:10.1111/epi.14678 · Cited by 39
Fragile X-associated tremor/ataxia syndrome: Pathophysiology and management
Hagerman, R., & Hagerman, P. (2021) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000954 · Cited by 40
Self-citationGrigsby, J. (2016) · The Clinical Neuropsychologist · doi:10.1080/13854046.2016.1184652 · Cited by 34
Self-citationDopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers
Ceravolo, R., Antonini, A., Volterrani, D., Rossi, C., Goldwurm, S., Di Maria, E., Kiferle, L., Bonuccelli, U., & Murri, L. (2005) · Neurology · doi:10.1212/01.wnl.0000188821.51055.52 · Cited by 33
Understanding fragile X syndrome
Berry-Kravis, E., Grossman, A. W., Crnic, L. S., & Greenough, W. T. (2002) · Current Paediatrics · doi:10.1054/cupe.2002.0305 · Cited by 29
Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses
Xunclà, M., Badenas, C., Domínguez, M., Rodríguez-Revenga, L., Madrigal, I., Jiménez, L., Soler, A., Borrell, A., Sánchez, A., & Milà, M. (2010) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2010.05.015 · Cited by 9
Metadata
- Authors
- Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B., & Hagerman, P. J.
- Venue
- Neurology
- Published
- 2001-07-10
- Volume
- 57
- Issue
- 1
- Pages
- 127-130
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W1988498459
- Cited by
- 964
- References
- 0
- FWCI
- 15.01
- 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
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.
