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Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.

Abstract：

: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 (479 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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Vucurovic K,Landais E,Delahaigue C,Eutrope J,Schneider A,Leroy C,Kabbaj H,Motte J,Gaillard D,Rolland AC,Doco-Fenzy M

doi

10.1016/j.ejmg.2012.07.009

subject

Has Abstract

pub_date

2012-11-01 00:00:00

pages

625-9

issue

11

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(12)00220-0

journal_volume

55

pub_type

杂志文章

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