کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5904982 | 1569508 | 2012 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
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چکیده انگلیسی
The SHANK3 protein is a scaffold protein known to stabilize metabotropic glutamate receptor mGluR5 in the post-synaptic membrane of neurons. It is associated with genetic vulnerability in autism and schizophrenia. Here we report the case of an 18 year-old male patient who displayed psychiatric features of bipolar affective disorder associated with early setting of dementia. This mental status is related to sporadic occurrence of SHANK3 gene complex multiple deletions. A low beta amyloid protein rate (479Â mg/L) found in cerebrospinal fluid suggests a possible link between SHANK3 deletion syndrome-associated regression and dementia of Alzheimers's type. In addition, we propose an overview of the phenotype related to SHANK3 deletion.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 55, Issue 11, November 2012, Pages 625-629
Journal: European Journal of Medical Genetics - Volume 55, Issue 11, November 2012, Pages 625-629
نویسندگان
Ksenija Vucurovic, Emilie Landais, Cécile Delahaigue, Julien Eutrope, Anouck Schneider, Camille Leroy, Hamza Kabbaj, Jacques Motte, Dominique Gaillard, Anne-Catherine Rolland, Martine Doco-Fenzy,