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


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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:   (1262 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.
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نوع مطالعه: گزارش مورد | موضوع مقاله: تخصصي
دریافت: 1400/6/3 | پذیرش: 1400/4/16 | انتشار: 1400/4/16

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