Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms

AbstractPurpose of ReviewTo present recent findings on the links between theC9orf72 expansion and psychiatric impairment.Recent FindingsRepeat hexanucleotide expansions in theC9orf72 gene are a cause of familial frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), and the mixed phenotype, FTD-ALS. Symptomatic expansion carriers display higher rates of psychotic and other psychiatric symptoms than non-carriers. Neuroanatomical associations of these symptoms have been found in cortical and subcortical areas. Family members of symptomatic carriers have higher rates of primary neuropsychiatric disorders than control populations, and theC9orf72 expansion may contribute to this association. However, the expansion does not appear to directly cause primary psychiatric disorders.SummaryWhile there is strong evidence associating theC9orf72 expansion with psychotic symptoms in carriers and psychiatric disorders in their kindreds, the link between these two phenomena, if any, remains unclear.
Source: Current Neurology and Neuroscience Reports - Category: Neuroscience Source Type: research

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A massive intronic hexanucleotide repeat (GGGGCC) expansion in C9ORF72 is a genetic origin of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recently, C9ORF72, together with SMCR8 and WDR41, has been shown to regulate autophagy and function as Rab GEF. However, the precise function of C9ORF72 remains unclear. Here, we...
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