Jose-Alberto Palma, MD, PhD

I am a neurologist and neuroscientist with a specific research interest in neurodegenerative and neurogenetic disorders. Over the past few years, my work has focused on designing and conducting clinical trials to test novel therapies for neurodegenerative disorders such as Parkinson's disease, atypical parkinsonian syndromes (such as multiple system atrophy, progressive supranuclear palsy, and dementia with Lewy bodies) Alzheimer’s disease, and prion disorders. 

I have a special interest in researching autonomic disorders affecting blood pressure and cardiovascular control, such as pure autonomic failure, neurogenic orthostatic hypotension, and familial dysautonomia and I have collaborated in the development of novel therapies and management strategies for these disorders.  My group follows the largest prospective cohort of patients with pure autonomic failure, a disorder now considered to be, in many cases, an early form (i.e., prodromal) of Parkinson’s disease and related disorders. We reported that specific factors in patients with pure autonomic failure can help to predict which patients will develop Parkinson’s disease or a related disorder. 

My work also involves identifying and developing new biomarkers that can be used for diagnosing or monitoring the progression of diseases during clinical trials. Some of the biomarkers my group has worked on include neuroimaging, blood biomarkers (such as neurofilament light or exosomal vesicles), retinal biomarkers (such as optical coherence tomography), and skin biomarkers (such as alpha-synuclein detection via skin biopsy).

My interest in neurogenetics has led me to collaborate with other groups to identify novel genetic markers for neurological disorders. For instance, my group was the first to discover a patient with multiple system atrophy who had an LRRK2 mutation, which is a mutation previously associated with an increased risk for Parkinson’s disease. We have also described new genetic variants associated with congenital insensitivity to pain and Lewy body dementia. My research has been funded by various institutions, including the National Institutes of Health. My research findings have been shared in over 200 publications in top biomedical journals and presentations at major conferences.