Fragile X-Associated Tremor/Ataxia Syndrome: An Illustrative Case

Fragile X-associated tremor ataxia syndrome (FXTAS) is an uncommon neurodegenerative disorder caused by a premutation of the CGG repeat expansion within the 5' UTR of the fragile-X mental retardation (FMR1) gene. Neurological manifestations of FXTAS include action tremor, ataxia, parkinsonism,...

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Published inJournal of movement disorders Vol. 12; no. 3; pp. 184 - 186
Main Authors Lee, Chaewon, Park, Kye Won, Choi, Nari, Ryu, Ho-Sung, Chung, Sun Ju
Format Journal Article
LanguageEnglish
Published Korea (South) The Korean Movement Disorder Society 01.09.2019
Korean Movement Disorder Society
대한파킨슨병및이상운동질환학회
Subjects
Letter to the Editor
신경과학
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ISSN2005-940X
2093-4939
DOI10.14802/jmd.18060

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Summary:Fragile X-associated tremor ataxia syndrome (FXTAS) is an uncommon neurodegenerative disorder caused by a premutation of the CGG repeat expansion within the 5' UTR of the fragile-X mental retardation (FMR1) gene. Neurological manifestations of FXTAS include action tremor, ataxia, parkinsonism, cognitive impairment, peripheral neuropathy, and autonomic dysfunction and typically occur in middle-aged men [1]. Here, we report a patient with FXTAS who presented typical clinical symptoms and structural and functional imaging features as an illustrative case report. KCI Citation Count: 2
Bibliography:content type line 23
SourceType-Scholarly Journals-1
ObjectType-Correspondence-1
ISSN:2005-940X
2093-4939
DOI:10.14802/jmd.18060