Early Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran

  • سال انتشار: 1400
  • محل انتشار: علوم اعصاب کاسپین، دوره: 7، شماره: 3
  • کد COI اختصاصی: JR_CJNS-7-3_007
  • زبان مقاله: انگلیسی
  • تعداد مشاهده: 234
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نویسندگان

Shahin Koohmanaee

Pediatric Diseases Research Center, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran

Fatemeh Kharaee

Pediatric Diseases Research Center, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran

Reza Bayat

Pediatric Diseases Research Center, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran

Maryam Shahrokhi

Department of Clinical Pharmacy, Faculty of Pharmacy, Guilan University of Medical Sciences, Rasht, Iran

Afagh Hassanzadeh Rad

Pediatric Diseases Research Center, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran

Saber Najafi Chakoosari

Student Research Committee, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran

Setila Dalili

Pediatric Diseases Research Center, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran

Mahsa Karambin

Research and Evaluation and Health Systems Management, Fanshawe College, London, Ontario, Canada

چکیده

Background: Different alleles of Fragile X Mental Retardation۱ (FMR۱) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with ۵۵ to ۲۰۰ repeats in the FMR۱ gene lead to FXTAS. It is carried by ۱ in ۲۰۹ women and ۱ in ۴۳۰ men. FXTAS commonly appears in ۵۰- to ۷۰-year-old adults. Case Presentation: An ۱۱ months old boy was referred to the hospital due to clinical presentations of productive cough seizure, mental disability, and ataxia. Magnetic Resonance Imaging (MRI), Electroencephalography (EEG), hematology, biochemistry, hormone, and genetic tests were done. Triplet repeat PCR (TP PCR) showed ۹۹ CGG repeats as permutation alleles. Conclusion: In this study, the authors reported the early onset of FXTAS in an ۱۱ months old boy for the first time.

کلیدواژه ها

Fragile X syndrome, Tremor, Ataxia

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