Advancing the awareness and management of rare neurological disorders: ALSP, PKU, CADASIL, SSADHD, & rare epilepsies
Description
Welcome to today’s podcast, which focuses on the understanding and management of rare brain disorders. This episode, in honor of Rare Disease Day, delves into a variety of rare conditions, including adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), phenylketonuria (PKU), cerebral autosomal dominant arteriopathy with subcortical infarct (CADASIL), succinic semialdehyde dehydrogenase deficiency (SSADHD), and rare epilepsies.
This podcast features Zbigniew Wszolek, MD, Mayo Clinic, Jacksonville, FL, Bernadette Sheehan Gilroy, PhD candidate and rare disease advocate, Munster Technological University, Kerry, Ireland, Elisa Ferrante, PhD, National Institutes of Health, Bethesda, MD, Christian Brandt, MD, Bielefeld University Medical School, Bielefeld, Germany, Simona Balestrini, MD, PhD, University College London, London, UK, and Henry Lee, PhD, Boston Children’s Hospital, Boston, MA.
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