کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5502798 | 1535091 | 2016 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation](/preview/png/5502798.png)
چکیده انگلیسی
Several dominant mutations of CACNA1A gene were associated with at least three different allelic disorders: spino-cerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine-1 (FHM1). It is generally thought that loss-of-function mutations are associated with EA2, gain-of-function missense mutations with FHM1, and abnormal CAG expansions with SCA6. But, overlapping features, atypical symptoms and co-occurrence of distinct phenotypes within the same family were reported. We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p.D302N CACNA1A gene mutation. In our family the phenotypes maintained separate and gender differences corresponding to different phenotypes were observed.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 371, 15 December 2016, Pages 81-84
Journal: Journal of the Neurological Sciences - Volume 371, 15 December 2016, Pages 81-84
نویسندگان
Luca MD, PhD, Monica Mencarelli, Matteo MD, Alessandra Milesi, Anna MD, Alessandro MD,