Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report

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dc.contributor.authorOcak, Özgül
dc.contributor.authorSılan, Fatma
dc.date.accessioned2025-01-27T19:35:16Z
dc.date.available2025-01-27T19:35:16Z
dc.date.issued2022
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractPeople carrying a fragile-X-mental retardation 1 (FMR1) expansion between 55 and 200 cytosine-guanine-guanine (CGG) repeats are at increased risk of the fragile-X-associated tremor/ataxia syndrome (FXTAS). FXTAS clinical findings are late-onset psychological disorders, cerebellar gait ataxia, cognitive decline, and cerebellar intentional tremor. About 8% of female and 75% of male FMR1 premutation carriers develop FXTAS. Due to the protective effect of the second X chromosome, FXTAS have rarely been observed in women extremely rare. We describe a sixty-eight-year-old female carrier of the FMR1 premutation who presented with symptoms of tremor and gait ataxia and whose son has mental retardation with fragile-X syndrome. Mild global brain atrophy and white- matter lesions were observed in the magnetic resonance imaging images. Genetic analysis confirmed the premutation with a number of 90 CGG repeats. FXTAS is a neurodegenerative disease with a premutation of the FMR1 gene. Female patients with gait ataxia and tremor should be referred for a genetic test with family members.
dc.identifier.doi10.4274/terh.galenos.2021.27122
dc.identifier.endpage491
dc.identifier.issn1305-7073
dc.identifier.issn1305-7146
dc.identifier.issue3
dc.identifier.startpage488
dc.identifier.trdizinid1168394
dc.identifier.urihttps://doi.org/10.4274/terh.galenos.2021.27122
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1168394
dc.identifier.urihttps://hdl.handle.net/20.500.12428/16881
dc.identifier.volume32
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.relation.ispartofİzmir Tepecik Eğitim Hastanesi Dergisi
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_TRD_20250125
dc.subjectMikroskopi
dc.subjectTarih
dc.subjectGenel ve Dahili Tıp
dc.subjectNörolojik Bilimler
dc.subjectGenetik ve Kalıtım
dc.subjectPediatri
dc.subjectPsikiyatri
dc.titleFragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report
dc.typeArticle

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