title: 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.affiliation: Department of Child and Adolescent Psychiatry, University Hospital of Reims, France. vksenija@yahoo.com
authors.forename: Ksenija
authors.initials: K
authors.lastname: Vucurovic
authors.forename: Emilie
authors.initials: E
authors.lastname: Landais
authors.forename: Cécile
authors.initials: C
authors.lastname: Delahaigue
authors.forename: Julien
authors.initials: J
authors.lastname: Eutrope
authors.forename: Anouck
authors.initials: A
authors.lastname: Schneider
authors.forename: Camille
authors.initials: C
authors.lastname: Leroy
authors.forename: Hamza
authors.initials: H
authors.lastname: Kabbaj
authors.forename: Jacques
authors.initials: J
authors.lastname: Motte
authors.forename: Dominique
authors.initials: D
authors.lastname: Gaillard
authors.forename: Anne-Catherine
authors.initials: AC
authors.lastname: Rolland
authors.forename: Martine
authors.initials: M
authors.lastname: Doco-Fenzy
mesh_terms: D000293:Adolescent; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid; D001714:Bipolar Disorder / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003704:Dementia / Q000175:diagnosis / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: D016229:Amyloid beta-Peptides; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human