Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
Version of Record online: 6 JUL 2007
Copyright © 2007 Movement Disorder Society
Volume 22, Issue 14, pages 2018–2030, 31 October 2007
How to Cite
Berry-Kravis, E., Abrams, L., Coffey, S. M., Hall, D. A., Greco, C., Gane, L. W., Grigsby, J., Bourgeois, J. A., Finucane, B., Jacquemont, S., Brunberg, J. A., Zhang, L., Lin, J., Tassone, F., Hagerman, P. J., Hagerman, R. J. and Leehey, M. A. (2007), Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines. Mov. Disord., 22: 2018–2030. doi: 10.1002/mds.21493
- Issue online: 26 OCT 2007
- Version of Record online: 6 JUL 2007
- Manuscript Accepted: 3 MAR 2007
- Manuscript Revised: 21 FEB 2007
- Manuscript Received: 10 NOV 2006
- Centers for Disease Control and Prevention. Grant Number: U10/CCU925123
- NIH. Grant Numbers: HD36071, NS044299, HD02274, NS43532
This article is part of the journal's CME program. The CME form can be found on page 2140 and is available online at http://www.movementdisorders.org/education/activities.html . This article includes supplementary video clips, available online at http://www.interscience.wiley.com/jpages/0885-3185/suppmat .
|mds21493-MDS21493.mpg||13265K||Segment 1 (Patient 1) for the full video is shown here.Segment 1. Patient 1 (FMR1 CGG count 106) is a 68-year-old man with progressive tremor for 19 years, gait ataxia for 11 years, and cognitive deficits for 7 years. Video demonstrates his large amplitude action head and bilateral hand tremor (kinetic > postural), unsteady gait, difficulty with tandem, and tremulous handwriting and spiral drawing. He has slightly reduced facial expression and moderate upper extremity rigidity.Segment 2. Patient 2 (CGG count 112) is 66-year-old and is a brother of patient 1. He has had bilateral hand tremor for 16 years and no ataxia. He has mild executive function deficits. Video demonstrates his head and prominent arm tremor (kinetic > postural > rest) and lack of ataxia and parkinsonism.Segment 3. Patient 3 (CGG count 125) is a 77-year-old man with gait ataxia for 12 years, hand tremor for eight years, and executive function deficits for about 5 years. The video shows his upper extremity action tremor (kinetic > postural), inability to tandem and mild parkinsonism (diminished facial expression and lack of left arm swing). He leans to the right as he walks.|
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