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Altered body schema processing in frontotemporal dementia with C9ORF72 mutations
Laura E Downey1, Phillip D Fletcher1, Hannah L Golden1
1Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, University College London, London, UK.
Journal of Neurology, Neurosurgery, and Psychiatry
|February 14, 2014
Summary
Mutations in C9ORF72 cause frontotemporal dementia (FTD) and motor neuron disease. This study found that C9ORF72-FTD patients have unique body schema processing deficits, suggesting a new mechanism for disease symptoms.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- C9ORF72 gene mutations are a leading cause of frontotemporal dementia (FTD) and motor neuron disease.
- FTD linked to C9ORF72 mutations often presents with early neuropsychiatric symptoms potentially related to body schema processing.
- The underlying pathophysiology of C9ORF72-FTD remains largely unknown.
Purpose of the Study:
- To investigate the neurophysiological underpinnings of body schema processing in C9ORF72-FTD.
- To compare body schema processing in C9ORF72-FTD patients with sporadic FTD, tau-mutation FTD, and healthy controls.
Main Methods:
- A detailed neurophysiological investigation was conducted on five patients with C9ORF72-FTD.
- Behavioral tasks were designed to assess somatosensory body schema processing, including tactile discrimination, proprioception, body part illusions, and self/non-self differentiation.
- Comparisons were made with patients suffering from other forms of FTD and healthy individuals.
Main Results:
- Patients with C9ORF72-FTD demonstrated specific deficits in various aspects of body schema processing.
- These deficits were distinct when compared to healthy individuals and patients with other forms of FTD.
Conclusions:
- Altered body schema processing is identified as a novel pathophysiological mechanism in C9ORF72-FTD.
- This mechanism may connect the known cortico-subcortical network dysfunction to the diverse neuropsychiatric and behavioral symptoms observed in C9ORF72-FTD.
- Impaired body schema processing could serve as a physiological marker for this neurodegenerative proteinopathy.
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