Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
Randi J Hagerman1,2, Deborah A Hall3, Sarah Coffey1,2, Maureen Leehey3, James Bourgeois4, John Gould5, Lin Zhang6, Andreea Seritan4, Elizabeth Berry-Kravis7–9, John Olichney6, Joshua W Miller10, Amy L Fong11, Randall Carpenter12, Cathy Bodine13, Louise W Gane1,2, Edgar Rainin1, Hillary Hag...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2008-06-01
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| Series: | Clinical Interventions in Aging |
| Online Access: | https://www.dovepress.com/treatment-of-fragile-x-associated-tremor-ataxia-syndrome-fxtas-and-rel-peer-reviewed-article-CIA |
| _version_ | 1818857422525038592 |
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| author | Randi J Hagerman Deborah A Hall Sarah Coffey Maureen Leehey James Bourgeois et al |
| author_facet | Randi J Hagerman Deborah A Hall Sarah Coffey Maureen Leehey James Bourgeois et al |
| author_sort | Randi J Hagerman |
| collection | DOAJ |
| description | Randi J Hagerman1,2, Deborah A Hall3, Sarah Coffey1,2, Maureen Leehey3, James Bourgeois4, John Gould5, Lin Zhang6, Andreea Seritan4, Elizabeth Berry-Kravis7–9, John Olichney6, Joshua W Miller10, Amy L Fong11, Randall Carpenter12, Cathy Bodine13, Louise W Gane1,2, Edgar Rainin1, Hillary Hagerman1, Paul J Hagerman141M.I.N.D. Institute, 2Department of Pediatrics, 4Department of Psychiatry & Behavioral Sciences, 5Department of Urology, 6Department of Neurology, 10Department of Pathology and Laboratory Medicine, 14Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, CA, USA; 3Department of Neurology, University of Colorado, Denver, CO, USA; 7Department of Pediatrics, Neurology, and Biochemistry, 8Department of Neurological Sciences, 9Department of Biochemistry, Rush University Medical Center, Chicago, IL, USA; 11Physical Edge, Inc., Davis, CA, USA; 12Seaside Therapeutics, Cambridge, MA, USA; 13Department of Physical Medicine and Rehabilitation, University of Colorado Health Sciences Center, Denver, CO, USAAbstract: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats) of the fragile X (FMR1) gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease) that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently known regarding the symptomatic treatment, or potential for treatment, of FXTAS.Keywords: fragile X syndrome, dementia, ataxia, neurodegeneration, parkinsonism, tremor |
| first_indexed | 2024-12-19T08:40:09Z |
| format | Article |
| id | doaj.art-88a08fb93ee1401f94007fdb6717d763 |
| institution | Directory Open Access Journal |
| issn | 1178-1998 |
| language | English |
| last_indexed | 2024-12-19T08:40:09Z |
| publishDate | 2008-06-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Clinical Interventions in Aging |
| spelling | doaj.art-88a08fb93ee1401f94007fdb6717d7632022-12-21T20:28:56ZengDove Medical PressClinical Interventions in Aging1178-19982008-06-01Volume 32512621751Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problemsRandi J HagermanDeborah A HallSarah CoffeyMaureen LeeheyJames Bourgeoiset alRandi J Hagerman1,2, Deborah A Hall3, Sarah Coffey1,2, Maureen Leehey3, James Bourgeois4, John Gould5, Lin Zhang6, Andreea Seritan4, Elizabeth Berry-Kravis7–9, John Olichney6, Joshua W Miller10, Amy L Fong11, Randall Carpenter12, Cathy Bodine13, Louise W Gane1,2, Edgar Rainin1, Hillary Hagerman1, Paul J Hagerman141M.I.N.D. Institute, 2Department of Pediatrics, 4Department of Psychiatry & Behavioral Sciences, 5Department of Urology, 6Department of Neurology, 10Department of Pathology and Laboratory Medicine, 14Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, CA, USA; 3Department of Neurology, University of Colorado, Denver, CO, USA; 7Department of Pediatrics, Neurology, and Biochemistry, 8Department of Neurological Sciences, 9Department of Biochemistry, Rush University Medical Center, Chicago, IL, USA; 11Physical Edge, Inc., Davis, CA, USA; 12Seaside Therapeutics, Cambridge, MA, USA; 13Department of Physical Medicine and Rehabilitation, University of Colorado Health Sciences Center, Denver, CO, USAAbstract: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats) of the fragile X (FMR1) gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease) that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently known regarding the symptomatic treatment, or potential for treatment, of FXTAS.Keywords: fragile X syndrome, dementia, ataxia, neurodegeneration, parkinsonism, tremorhttps://www.dovepress.com/treatment-of-fragile-x-associated-tremor-ataxia-syndrome-fxtas-and-rel-peer-reviewed-article-CIA |
| spellingShingle | Randi J Hagerman Deborah A Hall Sarah Coffey Maureen Leehey James Bourgeois et al Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems Clinical Interventions in Aging |
| title | Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems |
| title_full | Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems |
| title_fullStr | Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems |
| title_full_unstemmed | Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems |
| title_short | Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems |
| title_sort | treatment of fragile x associated tremor ataxia syndrome fxtas and related neurological problems |
| url | https://www.dovepress.com/treatment-of-fragile-x-associated-tremor-ataxia-syndrome-fxtas-and-rel-peer-reviewed-article-CIA |
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