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

سال انتشار: 1400
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 146

متن کامل این مقاله منتشر نشده است و فقط به صورت چکیده یا چکیده مبسوط در پایگاه موجود می باشد.
توضیح: معمولا کلیه مقالاتی که کمتر از ۵ صفحه باشند در پایگاه سیویلیکا اصل مقاله (فول تکست) محسوب نمی شوند و فقط کاربران عضو بدون کسر اعتبار می توانند فایل آنها را دریافت نمایند.

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این مقاله:

شناسه ملی سند علمی:

JR_CJNS-7-3_007

تاریخ نمایه سازی: 10 شهریور 1400

چکیده مقاله:

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:

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