In this episode I am joined by Prof Susan Perlman, clinical Professor of Neurology at the David Geffen School of Medicine at UCLA, to explore the diverse facets of the debilitating movement disorder known as ataxia. Susan is the author of ‘Evaluation and Management of Ataxic Disorders. An Overview for Physicians’.
Susan discussed the definition and clinical manifestations of ataxia, and she explored the diverse genetic and acquired causes of the disorder. She dwelled just as much on such genetic disorders as Friedreich’s ataxia, spinocerebeller ataxia, and FXTAS, and the acquired causes such as anti GAD antibody disease and multiple system atrophy.
The discussion also covered how to tease apart the four main types of impaired balance – cerebellar, vestibular, proprioceptive, and visual, and the seven major ataxia phenotypes; the clues to the genetic and acquired ataxias; the unreliability of the family history, and the genetic testing of adult onset ataxias, and the prospects of symptomatic and disease modifying treatments for ataxia.
Susan Perlman is the Director, Neurogenetics Clinical Trials Program; Director of the HDSA Huntington’s Disease Center of Excellence at UCLA; and Director, Ataxia Center, Department of Neurology, UCLA School of Medicine.
YouTube: https://youtu.be/IyDIeQgsOPQ
Spotify video: https://open.spotify.com/episode/3WvhehsZj64oPG7erW9uoM
Spotify audio: https://open.spotify.com/episode/7sw8pCvYjrhrndus42KJKb
The Neurology Lounge 