Recently our laboratory started working with Dr. Christopher Gomez on spinocerebellar ataxia type 1 (SCA1) and type 6 (SCA6), bringing together combined interests in motor system physiology, degenerative diseases, and connectivity analysis. Even though these diseases are genetically diagnosed, it is becoming clear that the identification and validation of additional disease biomarkers can provide more sensitive surrogate measures of disease progression and enable design of more efficient trials.
This work is unique because the findings demonstrate for the first time the functional cerebellar changes present at early stages of disease. Using a combination of DTI and intrinsic connectivity analysis of fMRI at rest, we found highly significant differences between patients with progression of SCA1 and neurologically intact subjects, making it a potential MRI biomarker.
This study, done in collaboration with Dr. James Mastrianni of the Department of Neurology, aims to develop a non-invasive technique for the reliable early diagnosis of Alzheimer disease (AD). Our technique builds upon previous work in classical behavioral neurology, basic anatomy, and modern neuropathology to create a novel method (using magnetic resonance imaging) to perform in vivo analysis of brain pathways that previously requiring post-mortem tissue analysis. Using diffusion tensor imaging (DTI) with MRI, and guided by methods of neuropathological dissection, we detected a highly significant difference in the integrity of the perforant pathway between people with AD and those who are cognitively intact.