کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5896518 1154961 2015 11 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The emergence of Parkinson disease among patients with Gaucher disease
ترجمه فارسی عنوان
ظهور بیماری پارکینسون در بیماران مبتلا به بیماری گوچه
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی علوم غدد
چکیده انگلیسی
In the last decade, several lines of evidence have been presented that document the clinical manifestations, genetic associations, and sub-cellular mechanisms of the inter-relatedness of β-glucocerebrosidase mutations and the emergence of Parkinson disease among carriers and patients with Gaucher disease. This review is an attempt to apprise the reader of the recent literature with the caveat that this is an area of intensive exploration that is constantly being updated because of the immediate clinical ramifications but also because of the impact on our understanding of Parkinson disease, and finally because of the unexpected inter-reactions between these entities on the molecular level. It has been an unexpected happenstance that it has been discovered that a rare monogenetic disease has an interface at many points with a neurological disorder of the elderly that has both familial and sporadic forms: to date there is no cure for either of these disorders.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Best Practice & Research Clinical Endocrinology & Metabolism - Volume 29, Issue 2, March 2015, Pages 249-259
نویسندگان
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