دوره 7، شماره 3 - ( 5-1400 )                   جلد 7 شماره 3 صفحات 180-183 | برگشت به فهرست نسخه ها


XML Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Koohmanaee S, Kharaee F, Bayat R, Shahrokhi M, Hassanzadeh Rad A, Najafi Chakoosari S, et al . Early Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran. Caspian.J.Neurol.Sci. 2021; 7 (3) :180-183
URL: http://cjns.gums.ac.ir/article-1-443-fa.html
Early Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran. مجله علوم اعصاب کاسپین. 1400; 7 (3) :180-183

URL: http://cjns.gums.ac.ir/article-1-443-fa.html


چکیده:   (330 مشاهده)
Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults.
Case Presentation: An 11 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 99 CGG repeats as permutation alleles.
Conclusion: In this study, the authors reported the early onset of FXTAS in an 11 months old boy for the first time.
متن کامل [PDF 911 kb]   (146 دریافت)    
نوع مطالعه: گزارش مورد | موضوع مقاله: تخصصي
دریافت: 1400/6/3 | پذیرش: 1400/4/16 | انتشار: 1400/4/16

ارسال نظر درباره این مقاله : نام کاربری یا پست الکترونیک شما:
CAPTCHA

بازنشر اطلاعات
Creative Commons License این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است.

کلیه حقوق این وب سایت متعلق به مجله علوم اعصاب کاسپین می باشد.

طراحی و برنامه نویسی : یکتاوب افزار شرق

© 2021 CC BY-NC 4.0 | Caspian Journal of Neurological Sciences

Designed & Developed by : Yektaweb