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

作者：Vucurovic Ksenija^*; Landais Emilie; Delahaigue Cecile; Eutrope Julien; Schneider Anouck; Leroy Camille; Kabbaj Hamza; Motte Jacques; Gaillard Dominique; Rolland Anne Catherine; Doco Fenzy Martine

来源：European Journal of Medical Genetics, 2012, 55(11): 625-629.

DOI：10.1016/j.ejmg.2012.07.009

• SHANK3 deletion
• Bipolar affective disorder
• 22q13 deletion syndrome
• Dementia onset
• Dementia of Alzheimer's type

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.

• 出版日期2012-11