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.

• Authors: Ksenija Vucurovic, Emilie Landais, Cécile Delahaigue, Julien Eutrope, Anouck Schneider, Camille Leroy, Hamza Kabbaj, Jacques Motte, Dominique Gaillard, Anne-Catherine Rolland, Martine Doco-Fenzy
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 55 Issue 11 Pg. 625-9 (Nov 2012) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 22922660 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Chemical References

• Amyloid beta-Peptides
• Nerve Tissue Proteins
• SHANK3 protein, human

Topics

• Adolescent
• Amyloid beta-Peptides (cerebrospinal fluid)
• Bipolar Disorder (diagnosis, genetics)
• Chromosome Deletion
• Chromosome Disorders (genetics)
• Chromosomes, Human, Pair 22 (genetics)
• Dementia (diagnosis, genetics)
• Gene Deletion
• Humans
• Male
• Nerve Tissue Proteins (genetics)