| A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS. | |
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MedLine Citation:
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PMID: 18241072 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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While an established protocol exists for diagnosing individuals with the fragile X-associated tremor/ataxia syndrome (FXTAS), a quantitative measure of tremor and ataxia is needed. Using the CATSYS system to quantify movement abnormalities, we were able to record tremor, postural sway, manual (hand and finger) coordination, and reaction time in males with the FMR1 premutation, both with and without FXTAS, and compare them to controls. We evaluated 16 males diagnosed with FXTAS, 16 males with the premutation without FXTAS (non-FXTAS), and 14 age-matched controls. The CATSYS system detected, in the dominant hand, a difference in intention tremor between the FXTAS group and controls (P = 0.0008). The 30-sec postural sway tasks revealed differences between the FXTAS group and controls, both with eyes open and closed (P = 0.0004 and P = 0.0031, respectively). There was also a difference between FXTAS and non-FXTAS 30-sec postural sway performances with eyes open (P = 0.0008). The 10-sec postural sway tasks (with eyes closed) served to confirm the differences between the FXTAS group and both the controls (P = 0.0017) and non-FXTAS premutation carriers (P = 0.0016). These results demonstrate that the quantitative measures of the CATSYS system can document significant differences in intention tremor and postural sway in patients with FXTAS compared to controls. |
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Authors:
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Dalila Aguilar; Kathryn E Sigford; Kultida Soontarapornchai; Danh V Nguyen; Patrick E Adams; Jennifer M Yuhas; Flora Tassone; Paul J Hagerman; Randi J Hagerman |
Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Mar |
Date Detail:
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Created Date: 2008-02-28 Completed Date: 2008-05-07 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 629-35 Citation Subset: IM |
Copyright Information:
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(c) 2008 Wiley-Liss, Inc. |
Affiliation:
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Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California-Davis Medical Center, Sacramento, California 95817, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Ataxia
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diagnosis*,
genetics* Fragile X Mental Retardation Protein / genetics* Humans Male Middle Aged Mutation* Syndrome Tremor / diagnosis*, genetics* |
| Grant Support | |
ID/Acronym/Agency:
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HD02274/HD/NICHD NIH HHS; HD36071/HD/NICHD NIH HHS; NS044299/NS/NINDS NIH HHS; U10/CCU925123//PHS HHS; UL1 RR024146/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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