title: Expanded (CAG)n, (CGG)n and (GAA)n trinucleotide repeat microsatellites, and mutant purine synthesis and pigmentation genes cause schizophrenia and autism.
abstract: Unstable (CAG)n trinucleotide repeat microsatellites are hypothesized to cause schizophrenia. The (CAG)n microsatellite of dominant spinal cerebellar ataxia type 1 (SCA1) is a candidate schizophrenia gene. Autism results from expansions of (CGG)n and (GAA)n trinucleotide repeat stretches at fragile X syndrome (FRAXA), and the recessive Friedreich's ataxia (FA). Dominant ataxia genes may cause schizophrenia and recessive ataxia genes may cause autism. Syndromes with autism show purine synthesis defects (PSDs) and/or pigmentation defects (PDs). Autism is caused by very lengthy expansions of (CAG)n, (CGG)n and (GAA)n repeats, while schizophrenia results from much smaller (CAG)n and (CGG)n repeat expansions.
authors.forename: K M
authors.initials: KM
authors.lastname: Fischer
mesh_terms: D000818:Animals; D001321:Autistic Disorder / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D005621:Friedreich Ataxia / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D008957:Models, Genetic; D010858:Pigmentation / Q000235:genetics*; D011687:Purines / Q000096:biosynthesis*; D012559:Schizophrenia / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D011687:Purines