Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline. This disorder occurs in both males and females, frequently in families with children who have fragile...
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| Format: | Article |
| Language: | English |
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Ubiquity Press
2012-05-01
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| Series: | Tremor and Other Hyperkinetic Movements |
| Online Access: | https://tremorjournal.org/index.php/tremor/article/view/56 |
| _version_ | 1818434872914477056 |
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| author | Deborah A. Hall Joan A. O'Keefe |
| author_facet | Deborah A. Hall Joan A. O'Keefe |
| author_sort | Deborah A. Hall |
| collection | DOAJ |
| description | Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline. This disorder occurs in both males and females, frequently in families with children who have fragile X syndrome. The clinical features of this disorder, both classic and newly described, are summarized in this paper. In screening studies, fragile X mental retardation 1 (<em>FMR1)</em> gene premutation (55–200 CGG) expansions are most frequently seen in men with ataxia who have tested negative for spinocerebellar ataxias. Since the original description, the classic FXTAS phenotype has now been reported in females and in carriers of smaller (45–54 CGG) and larger (>200 CGG) expansions in <em>FMR1.</em> Premutation carriers may present with a Parkinson disease phenotype or hypotension, rather than with tremor and/or ataxia. Parkinsonism and gait ataxia may also be seen in individuals with gray zone (41–54 CGG) expansions. Studies regarding medication to treat the symptoms in FXTAS are few in number and suggest that medications targeted to specific symptoms, such as kinetic tremor or gait ataxia, may be most beneficial. Great progress has been made in regards to FXTAS research, likely given the readily available gene test and the screening of multiple family members, including parents and grandparents, of fragile X syndrome children. Expansion of genotypes and phenotypes in the disorder may suggest that a broader disease definition might be necessary in the future.<em></em> |
| first_indexed | 2024-12-14T16:43:54Z |
| format | Article |
| id | doaj.art-10c9f49feb884c678e109ec43b7bc811 |
| institution | Directory Open Access Journal |
| issn | 2160-8288 |
| language | English |
| last_indexed | 2024-12-14T16:43:54Z |
| publishDate | 2012-05-01 |
| publisher | Ubiquity Press |
| record_format | Article |
| series | Tremor and Other Hyperkinetic Movements |
| spelling | doaj.art-10c9f49feb884c678e109ec43b7bc8112022-12-21T22:54:14ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882012-05-01210.7916/D8HD7TDS39Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on TreatmentDeborah A. HallJoan A. O'KeefeFragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline. This disorder occurs in both males and females, frequently in families with children who have fragile X syndrome. The clinical features of this disorder, both classic and newly described, are summarized in this paper. In screening studies, fragile X mental retardation 1 (<em>FMR1)</em> gene premutation (55–200 CGG) expansions are most frequently seen in men with ataxia who have tested negative for spinocerebellar ataxias. Since the original description, the classic FXTAS phenotype has now been reported in females and in carriers of smaller (45–54 CGG) and larger (>200 CGG) expansions in <em>FMR1.</em> Premutation carriers may present with a Parkinson disease phenotype or hypotension, rather than with tremor and/or ataxia. Parkinsonism and gait ataxia may also be seen in individuals with gray zone (41–54 CGG) expansions. Studies regarding medication to treat the symptoms in FXTAS are few in number and suggest that medications targeted to specific symptoms, such as kinetic tremor or gait ataxia, may be most beneficial. Great progress has been made in regards to FXTAS research, likely given the readily available gene test and the screening of multiple family members, including parents and grandparents, of fragile X syndrome children. Expansion of genotypes and phenotypes in the disorder may suggest that a broader disease definition might be necessary in the future.<em></em>https://tremorjournal.org/index.php/tremor/article/view/56 |
| spellingShingle | Deborah A. Hall Joan A. O'Keefe Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment Tremor and Other Hyperkinetic Movements |
| title | Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment |
| title_full | Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment |
| title_fullStr | Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment |
| title_full_unstemmed | Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment |
| title_short | Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment |
| title_sort | fragile x associated tremor ataxia syndrome the expanding clinical picture pathophysiology epidemiology and update on treatment |
| url | https://tremorjournal.org/index.php/tremor/article/view/56 |
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