Speaker: Roberta La Piana, MD, PhD
Assistant Professor, Department of Neurology & Neurosurgery, Montreal Neurological Institute, McGill University
Bio: Roberta La Piana is an Assistant Professor in the Department of Neurology & Neurosurgery at the Montreal Neurological Institute. She earned her MD at University of Pavia, Italy, and she then specialized in Pediatric Neurology and Psychiatry at the same University. She completed her PhD in Neuroscience at McGill University.
She has been working on hereditary myelin disorders for more than 10 years and she contributed to the MRI-pattern definition of some pediatric genetic leukoencephalopathies (Aicardi-Goutieres Syndrome, POL3R-related disorders). During her PhD, Dr. La Piana became interested in adult-onset undiagnosed forms of leukoencephalopathies and developed an interdisciplinary profile which combines the expertise in neuroradiology and genetics with her clinical training.
Her research focuses on:
- the application of MRI pattern-recognition to define and characterize genetic white matter diseases;
- the identification of genes responsible for new forms of hereditary white matter disorders using next generation sequencing techniques;
- the understanding of the clinical and MRI overlap between atypical multiple sclerosis and genetic leukoencephalopathies.
Talk Abstract: White matter disorders classically present in children and adults with dramatic motor and sensory symptoms. However, especially in adulthood, affected patients may show a more insidious clinical presentation in which psychiatric symptoms dominate. Not recognizing or misdiagnosing a leukoencephalopathy has important repercussions for treatment options and oftentimes genetic and family counselling. We used a multidisciplinary approach combining MRI-pattern recognition with clinical phenotyping and next-generation sequencing to define and characterize leukoencephalopathies that present with psychiatric symptoms. We designed an MRI algorithm that guides the interpretation of the MRI findings of these leukoencephalopathies and thus directs further investigations.