Roberta La Piana

Genetic white matter diseases are considered rare in the adult population. However, several lines of evidence suggest that there is a larger than expected number of adult patients with genetic leukoencephalopathies who are currently not diagnosed or diagnosed with important delays. Psychiatric and cognitive symptoms often dominate the clinical onset and contribute to the high rate of misdiagnosis. The clinical and radiological overlap with acquired demyelinating disorders represents another major challenge in the diagnostic process of adult genetic leukoencephalopathies. Interestingly, the study of the pathophysiology of genetic white matter diseases can increase our understanding of acquired inflammatory disorders and other more common neurodegenerative diseases.

Roberta La Piana is an Assistant Professor in the Department of Neurology & Neurosurgery at the Montreal Neurological Institute and Associate Member of the Department of Radiology at McGill University. She earned her MD at University of Pavia, Italy, where she then specialized in Pediatric Neurology and Psychiatry. She completed her PhD in Neuroscience at McGill University. After working on pediatric white matter disorders for more than 10 years, Dr. La Piana became interested in adult-onset leukoencephalopathies and developed an interdisciplinary profile which combines the expertise in neuroradiology and genetics with her clinical training. In the past five years, this work led to the discovery of expanding phenotypes of several adult leukodystrophies and the identification of novel disease-causing variants. Her research focuses on: -the application of MRI pattern-recognition to define and characterize genetic white matter diseases; -the identification of novel genes responsible for new forms of hereditary white matter disorders using next generation sequencing techniques; -the understanding of the clinical and MRI overlap between immune-inflammatory disorders and genetic leukoencephalopathies. Since 2013 she is the coordinator of the White Matter Rounds Network. Initially held locally at the Neuro with the goal to discuss atypical white matter diseases, the White Matter Rounds evolved into an international network which now includes more than 15 centers around the world.

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