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All About XLinked Cerebellar Ataxias
>> YOUR LINK HERE: ___ http://youtube.com/watch?v=0ijlPbThS2k
The National Ataxia Foundation is proud to host this webinar presented by Dr. Ginevra Zanni and Enrico Bertini on October 30th, 2024. In All About X-Linked Cerebellar Ataxias , these two experts joined us to take a look at the causes and symptoms of X-Linked Cerebellar Ataxia (XLCA), the typical diagnostic journey for those affected, what to expect for clinical care, and an overview of current research into these diseases. XLCA includes several different conditions, such as X-linked spinocerebellar ataxia, X-linked ataxia with spasticity, X-linked ataxia with deafness, X-linked ataxia with dementia, X-linked congenital ataxia, Oligophrenin-1 syndrome, CASK syndrome, Christianson syndrome, and X-linked adrenoleukodystrophy-ataxic variant. • This webinar will not discuss Fragile X syndrome or Fragile X-associated tremor/ataxia syndrome. Please see our two previous webinars on these conditions for more information. • For more information on Ataxia, please visit our website: https://www.ataxia.org • Become a Free NAF member! https://bit.ly/JoinNAF • Follow us on Social Media! • NAF Facebook: / ataxiafounda. . • NAF Twitter: / naf_ataxia • NAF Instagram: / ataxiafound. . • Ataxia Subreddit: / ataxia • Speaker: Ginevra Zanni, MD, PhD • Institution: Bambino Gesu Children's Hospital • Bio: Ginevra Zanni is a neurogeneticist at Bambino Gesù Children’s Hospital in Rome, Italy. Her scientific career has been devoted to the screening and identification of new genes involved in rare neurodevelopmental disorders and to the characterization of physiopathological mechanisms and genotype-phenotype correlates. She currently mainly works on pediatric ataxias and neurodevelopmental disorders. • Speaker: Enrico Bertini, MD • Institution: Bambino Gesu Children's Hospital • Bio: Enrico Bertini is a pediatric neurologist leading the Clinical, Diagnostic, and Research Laboratory Unit of Neuromuscular and Neurodegenerative Diseases, and the Laboratory of Molecular Medicine of the Bambino Gesù Children’s Hospital, in Rome. He is a Contract Professor of Pediatric Neurology, and, has consolidated and worldwide known expertise in neuromuscular disorders. He is a member of several Scientific societies and is a member of Scientific Committees of several patient associations (SMA, Mitochondrial Disorders). He has long-lasting experience in the organization of the team, in providing funds for care and research, and in setting national and international collaborations. Dr. Bertini is on the Advisory Board of SMA REACH UK: Spinal Muscular Atrophy Research and Clinical Hub UK: Improving standards of care and Translational Research in Spinal Muscular Atrophy. He is also a Member of the Scientific Committee of Italian Families for SMA, a Member of the Scientific Committee of SMA Europe, and a Member of the Scientific Committee of the Italian Family Association for Mitochondrial Disease, MITOCON. • About the Series: • NAF is producing a series of monthly educational webinars that focus on one type of Ataxia at a time. Each month we will feature a different type. Clinical experts will join us to take a look at the causes and symptoms of the disease, the typical diagnostic journey for those affected, and what to expect for clinical care. Research experts will teach us how the disease is studied and give an overview of the current state of research and drug development.
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