Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases
المؤلفون المشاركون
Larsen, Paul
Rao, Vamshi K.
DiDonato, Christine J.
المصدر
Case Reports in Neurological Medicine
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-08-09
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene.
It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Nearly 95-98% of patients are homozygous for a 90-1300 GAA repeat expansion with only 2-5% demonstrating compound heterozygosity.
Compound heterozygous individuals have a repeat expansion in one allele and a point mutation/deletion/insertion in the other.
Compound heterozygosity and point mutations are very rare causes of Friedreich’s ataxia and nonsense mutations are a further rarity among point mutations.
We report a rare compound heterozygous Friedrich’s ataxia patient who was found to have one expanded GAA FXN allele and a nonsense point mutation in the other.
We summarize the four previously published cases of nonsense mutations and compare the phenotype to that of our patient.
We compared clinical information from our patient with other nonsense FXN mutations reported in the literature.
This nonsense mutation, to our knowledge, has only been described once previously; interestingly the individual was also of Cuban ancestry.
A comparison with previously published cases of nonsense mutations demonstrates some common clinical characteristics.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Rao, Vamshi K.& DiDonato, Christine J.& Larsen, Paul. 2018. Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases. Case Reports in Neurological Medicine،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1145488
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Rao, Vamshi K.…[et al.]. Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases. Case Reports in Neurological Medicine No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1145488
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Rao, Vamshi K.& DiDonato, Christine J.& Larsen, Paul. Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases. Case Reports in Neurological Medicine. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1145488
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1145488
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر