Imaging biomarkers for the diagnosis of Prion disease

Prion diseases are a group of progressive neurodegenerative conditions which cause cognitive impairment and neurological deficits. To date, there is no accurate measure that can be used to diagnose this illness, or to quantify the evolution of symptoms over time. Prion disease, due to its rarity, is in fact commonly mistaken for other types of dementia. A robust tool to diagnose and quantify the progression of the disease is key as it would lead to more appropriately timed clinical trials, and thereby improve patients' quality of life. The approaches used to study other types of neurodegenerative diseases are not satisfactory to capture the progression of human form of Prion disease. This is due to the large heterogeneity of phenotypes of Prion disease and to the lack of consistent geometrical pattern of disease progression. In this paper, we aim to identify and select imaging biomarkers that are relevant for the diagnostic on Prion disease. We extract features from magnetic resonance imaging data and use genetic and demographic information from a cohort affected by genetic forms of the disease. The proposed framework consists of a multi-modal subjectspecific feature extraction step, followed by a Gaussian Process classifier used to calculate the probability of a subject to be diagnosed with Prion disease. We show that the proposed method improves the characterisation of Prion disease.