The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Tremor and ataxia in fragile X premutation carriers: Blinded videotape study
Abstract
Fragile X premutation carriers do not have typical fragile X syndrome (FXS) although late‐onset progressive action tremor and gait disorder with CNS atrophy was recently reported in male carriers. We compared tremor, gait disorder and parkinsonian signs in FXS premutation subjects (age 50 or more) and a similar control population, using a standardized videotaping protocol. Videotapes were rated using standard scales for tremor (CRST), ataxia (ICARS), and parkinsonian signs (UPDRS) by an investigator blinded to premutation status. Compared to all other groups pooled (n = 30), the male premutation carrier group (n = 7) had significantly higher scores on the CRST (p = 0.0008), ICARS (p = 0.001), and UPDRS (p = 0.0094). On the CRST, rest, postural and kinetic tremor scores were all higher in the male carriers. The elevated total UPDRS and ICARS scores mainly resulted from markedly higher scores for tremor and limb ataxia, respectively. The female carrier (n = 14) and control groups (n = 8) did not differ on any measure. The FMR1 premutation is associated with increased levels of CGG repeat‐containing FMR1 mRNA, which may predispose to these symptoms by interfering with nuclear mechanisms. Given the relatively high population frequency of the FMR1 premutation, this mutation may be a significant cause of late‐onset “idiopathic” progressive tremor. Ann Neurol 2003
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“However, there is evidence that DA functioning may be atypical in FXS, as shown by high rates of comorbidity with tremor disorders [725], higher blink rates [726], and emerging preclinical models [714].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [725]
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Members of the UPDRS Development Committee. Unified Parkinson's Disease Rating Scale
Fahn, S. (1987) · Medical Entomology and Zoology · Cited by 2,163
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Absence of expression of the FMR-1 gene in fragile X syndrome
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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kreß, W., Naylor, S. L., Day, J., & Ranum, L. P. W. (2001) · Science · doi:10.1126/science.1062125 · Cited by 1,254
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
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Self-citationCore assessment program for surgical interventional therapies in Parkinson's disease (CAPSIT-PD)
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Self-citationSavkur, R. S., Philips, A. V., & Cooper, T. A. (2001) · Nature Genetics · doi:10.1038/ng704 · Cited by 795
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Kaufmann, W. E. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821635-4.00173-9
Berman, F., Navarro, S., Hagerman, J., Hagerman, R. J., Smits, P., Kros, J. M., & Mc, E. (2011)
Self-citationRana, A. Q., & Hedera, P. (2013) · Springer eBooks · doi:10.1007/978-3-319-01607-8_1
Jankovic, J. J., Hallett, M., Okun, M. S., Comella, C., Fahn, S., & Goldman, J. G. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-31071-0.00010-x
(2005) · Springer eBooks · doi:10.1007/3-540-27660-2_54
Nashatizadeh, M. M., Lyons, K. E., & Pahwa, R. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374105-9.00088-5
Age-dependent impairment of dopamine D1 receptor signalling in mouse striatum by FMR1 variant P626L
Fu, J., Jiang, W., Shen, L., Fu, J., Duan, X., Liu, D., Long, J., Ye, S., Tang, L., Yi, Y., et al. (2025) · Brain Communications · doi:10.1093/braincomms/fcaf338 · Cited by 1
Essential tremor-like phenotype in Fragile X carrier women
Hall, D. A., Loesch, D. Z., Svymbersky, T., Berry‐Kravis, E., & Ouyang, B. (2026) · Clinical Parkinsonism & Related Disorders · doi:10.1016/j.prdoa.2026.100436
Self-citationAbbeduto (2004) · doi:10.1352/0895-8017(2004)109
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Metadata
- Authors
- Berry‐Kravis, E., Lewin, F., Wuu, J., Leehey, M., Hagerman, R., Hagerman, P., & Goetz, C. G.
- Affiliations
- Rush University Medical Center (US)
- University of California Davis Medical Center (US)
- Corresponding author
- Berry‐Kravis, Elizabeth
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2003-03-28
- Volume
- 53
- Issue
- 5
- Pages
- 616-623
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2059514979
- Cited by
- 109
- References
- 33
- Citations by year
- 2026: 1 · 2025: 3 · 2022: 1 · 2021: 4 · 2020: 6 · 2019: 3 · 2016: 3 · 2014: 4 · 2013: 5 · 2012: 5
- FWCI
- 6.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS043532, NS 43532)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Clinical Neurology › Deep Brain Stimulation and Movement Disorders
- Keywords
- fragile X premutation, FMR1 gene, action tremor, ataxia, parkinsonian signs, gait disturbance, CGG repeat expansion, FMR1 mRNA, sex differences, male carriers
- MeSH terms
- Aged, Ataxia, Atrophy, Central Nervous System, DNA Mutational Analysis, Female, Fragile X Syndrome, Heterozygote, Humans, Male, Middle Aged, RNA, Messenger, Tremor, Videotape Recording, Point Mutation
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