The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a genetically determined neurodegenerative disease which is caused by a 55–200 expansion of CGG repeat element in the promoter region of the fragile X mental retardation 1 (FMR1) gene. The major clinical manifestations are tremor and cerebellar...
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Veröffentlicht in: | Parkinsonism & related disorders 2019-08, Vol.65, p.32-38 |
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description | Fragile X-associated tremor/ataxia syndrome (FXTAS) is a genetically determined neurodegenerative disease which is caused by a 55–200 expansion of CGG repeat element in the promoter region of the fragile X mental retardation 1 (FMR1) gene. The major clinical manifestations are tremor and cerebellar ataxia. Different types of tremor are described in patients with FXTAS: essential tremor-like, rest tremor and cerebellar tremor, and the different tremor types may coexist. There is no effective disease modifying therapy for FXTAS, but troublesome tremor may be treated by pharmacological and surgical approaches used for other more common disorders such as essential tremor and Parkinson's disease.
•FXTAS is an inherited age-dependent genetic neurodegenerative disorder which is caused by an expanded CGG repeat, a premutation in the FMR1 gene.•The cerebellar, brainstem and basal ganglia pathologic involvement contribute to different types of tremor.•Orthostatic, rest, intention, cerebellar and essential-like tremor presentations are described, some of which may co-exist in a patient.•Tremor in FXTAS patients is a troublesome and disabling symptom that can be treated by pharmacological and surgical approaches. |
doi_str_mv | 10.1016/j.parkreldis.2019.05.010 |
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•FXTAS is an inherited age-dependent genetic neurodegenerative disorder which is caused by an expanded CGG repeat, a premutation in the FMR1 gene.•The cerebellar, brainstem and basal ganglia pathologic involvement contribute to different types of tremor.•Orthostatic, rest, intention, cerebellar and essential-like tremor presentations are described, some of which may co-exist in a patient.•Tremor in FXTAS patients is a troublesome and disabling symptom that can be treated by pharmacological and surgical approaches.</description><identifier>ISSN: 1353-8020</identifier><identifier>EISSN: 1873-5126</identifier><identifier>DOI: 10.1016/j.parkreldis.2019.05.010</identifier><identifier>PMID: 31126791</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>FMR1 gene ; Fragile X-associated tremor/ataxia syndrome ; FXTAS ; Tremor</subject><ispartof>Parkinsonism & related disorders, 2019-08, Vol.65, p.32-38</ispartof><rights>2019</rights><rights>Copyright © 2019. Published by Elsevier Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c374t-948b3bf1409c20c4bbc84ec5d8d96ca5072cadd6863ec1f5e306eb5b30f82f713</citedby><cites>FETCH-LOGICAL-c374t-948b3bf1409c20c4bbc84ec5d8d96ca5072cadd6863ec1f5e306eb5b30f82f713</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1353802019302317$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31126791$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fay-Karmon, Tsviya</creatorcontrib><creatorcontrib>Hassin-Baer, Sharon</creatorcontrib><title>The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS)</title><title>Parkinsonism & related disorders</title><addtitle>Parkinsonism Relat Disord</addtitle><description>Fragile X-associated tremor/ataxia syndrome (FXTAS) is a genetically determined neurodegenerative disease which is caused by a 55–200 expansion of CGG repeat element in the promoter region of the fragile X mental retardation 1 (FMR1) gene. The major clinical manifestations are tremor and cerebellar ataxia. Different types of tremor are described in patients with FXTAS: essential tremor-like, rest tremor and cerebellar tremor, and the different tremor types may coexist. There is no effective disease modifying therapy for FXTAS, but troublesome tremor may be treated by pharmacological and surgical approaches used for other more common disorders such as essential tremor and Parkinson's disease.
•FXTAS is an inherited age-dependent genetic neurodegenerative disorder which is caused by an expanded CGG repeat, a premutation in the FMR1 gene.•The cerebellar, brainstem and basal ganglia pathologic involvement contribute to different types of tremor.•Orthostatic, rest, intention, cerebellar and essential-like tremor presentations are described, some of which may co-exist in a patient.•Tremor in FXTAS patients is a troublesome and disabling symptom that can be treated by pharmacological and surgical approaches.</description><subject>FMR1 gene</subject><subject>Fragile X-associated tremor/ataxia syndrome</subject><subject>FXTAS</subject><subject>Tremor</subject><issn>1353-8020</issn><issn>1873-5126</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNqFkc1u1DAQgC0EoqXwCsjHckg6tuP8HEvFAlIREixSb5ZjT1ovSRxsB-gD8N54uwscOc1I882MZj5CKIOSAasvduWiw9eAo3Wx5MC6EmQJDB6RU9Y2opCM149zLqQoWuBwQp7FuAOARoJ4Sk4Ey0DTsVPya3uHNC5oUlgn6geaAk4-UD35-ZYaHYLDEB8KGdx8-MTokok16eT8TH-4dEczvo9-TQ_QEPStG5HeFDpGb5xOaI9jL3TSP52m8X62wU9Izzc328vPr56TJ4MeI744xjPyZfNme_WuuP749v3V5XVhRFOloqvaXvQDq6AzHEzV96at0Ejb2q42WkLDjba2bmuBhg0SBdTYy17A0PKhYeKMnB_mLsF_WzEmNblocBz1jH6NinPBGTRNXWW0PaAm-BgDDmoJbtLhXjFQewlqp_5JUHsJCqTKEnLry-OWtZ_Q_m388_UMvD4AmG_9nh-sonE4G7QuZBPKevf_Lb8BmS2fiQ</recordid><startdate>201908</startdate><enddate>201908</enddate><creator>Fay-Karmon, Tsviya</creator><creator>Hassin-Baer, Sharon</creator><general>Elsevier Ltd</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201908</creationdate><title>The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS)</title><author>Fay-Karmon, Tsviya ; Hassin-Baer, Sharon</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c374t-948b3bf1409c20c4bbc84ec5d8d96ca5072cadd6863ec1f5e306eb5b30f82f713</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>FMR1 gene</topic><topic>Fragile X-associated tremor/ataxia syndrome</topic><topic>FXTAS</topic><topic>Tremor</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fay-Karmon, Tsviya</creatorcontrib><creatorcontrib>Hassin-Baer, Sharon</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Parkinsonism & related disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fay-Karmon, Tsviya</au><au>Hassin-Baer, Sharon</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS)</atitle><jtitle>Parkinsonism & related disorders</jtitle><addtitle>Parkinsonism Relat Disord</addtitle><date>2019-08</date><risdate>2019</risdate><volume>65</volume><spage>32</spage><epage>38</epage><pages>32-38</pages><issn>1353-8020</issn><eissn>1873-5126</eissn><abstract>Fragile X-associated tremor/ataxia syndrome (FXTAS) is a genetically determined neurodegenerative disease which is caused by a 55–200 expansion of CGG repeat element in the promoter region of the fragile X mental retardation 1 (FMR1) gene. The major clinical manifestations are tremor and cerebellar ataxia. Different types of tremor are described in patients with FXTAS: essential tremor-like, rest tremor and cerebellar tremor, and the different tremor types may coexist. There is no effective disease modifying therapy for FXTAS, but troublesome tremor may be treated by pharmacological and surgical approaches used for other more common disorders such as essential tremor and Parkinson's disease.
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subjects | FMR1 gene Fragile X-associated tremor/ataxia syndrome FXTAS Tremor |
title | The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS) |
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