[Autism: more evidence of a genetic cause].
Autism spectrum disorders (ASD) affect at least 1/200 individuals. They are characterized by impaired communication skills and social interaction, as well as restricted, repetitive and stereotyped behaviours. Recent studies point to a role of a synaptic pathway, including synaptic cell adhesion molecules (neuroligins and neurexins) and scaffolding proteins (SHANK3). Abnormal synapse formation/maintenance and an imbalance between GABAergic and glutamatergic synaptic currents seem to be involved in the etiology of ASD.
Bourgeron
Thomas
T
Laboratoire de génétique humaine et fonctions cognitives, Institut Pasteur, 25, rue du Dr Roux 75015 Paris.
Leboyer
Marion
M
Delorme
Richard
R
D001321:Autistic Disorder / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D006801:Humans; D009419:Nerve Tissue Proteins; D013569:Synapses / Q000502:physiology
D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human