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Biomarkers to track progress of genetic frontotemporal dementia

Frontotemporal dementia is a neurodegenerative disorder characterised by loss of neurons in the frontal and temporal lobes. It is a common cause of early-onset dementia but can also start in older age. It presents with behavioural symptoms or language disturbance (primary progressive aphasia), and patients can also develop symptoms of motor neurone disease. It is a highly heritable disease with one third of patients having a family history and a mutation in one of three genes. The ideal time to treat neurodegenerative disease may be before clinical presentation, at a point where the minimum of irreversible neuronal loss has occurred and cognitive function is still preserved.

Coloured magnetic resonance imaging scan of the brain of a 50-year-old patient with frontotemporal dementia

Picture credit: Science Photo Library

This study looked for biomarkers that could show changes before the onset of symptoms. Researchers compared known carriers of the genetic mutation with non-carriers using magnetic resonance imaging scans and neuropsychological testing. The scans showed that carriers have changes in the insula (involved in emotion and self-perception) and in the temporal lobe, ten years before expected onset of symptoms. Neuropsychological testing also revealed changes five years before expected onset of symptoms. These findings suggest biomarkers could be used to track disease progression in future therapeutic trials.

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