Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms
| Autor: | Hannah Silverman, Edward D. Huey, Jill Goldman |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Heterozygote Neurology DNA Repeat Expansion C9orf72 Protein business.industry Genetic Linkage General Neuroscience Mental Disorders medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Phenotype C9orf72 Medicine Humans Neurology (clinical) Amyotrophic lateral sclerosis Trinucleotide repeat expansion business Psychiatry 030217 neurology & neurosurgery Frontotemporal dementia |
| Zdroj: | Current neurology and neuroscience reports. 19(12) |
| ISSN: | 1534-6293 |
| Popis: | To present recent findings on the links between the C9orf72 expansion and psychiatric impairment. Repeat hexanucleotide expansions in the C9orf72 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 the C9orf72 expansion may contribute to this association. However, the expansion does not appear to directly cause primary psychiatric disorders. While there is strong evidence associating the C9orf72 expansion with psychotic symptoms in carriers and psychiatric disorders in their kindreds, the link between these two phenomena, if any, remains unclear. |
| Databáze: | OpenAIRE |
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