MDS-PAS Video Presentation Chantale Branson, M.D. Boston University Medical Center

A 17 year old right handed man presenting with involuntary upper torso movements and abnormal gait. At 10 years of age, the patient developed clumsiness Slow movements of the head Brief and non-repetitive movements of his arms Suppressible Worsen during stress Unable to play hockey History

Developmental History: Unremarkable Review of Systems: He would often faint upon standing despite appropriate consumption of water daily. Family History: His younger sister began developing similar symptoms around the same age. His mother, father and maternal cousins are asymptomatic.

Differential Diagnosis Friedreich Ataxia Ataxia with oculomotor apraxia type 1 Vitamin E deficiency Spastic Ataxia of Charlevoix-Saguenay Chediak-Higashi Syndrome Ataxia telangiectasia Marinesco-Sjogren syndrome

Ataxia with oculomotor Apraxia type II Clinical Features ●Second decade ●Progressive ataxia ●slow saccades ●sensorimotor neuropathy with arreflexia ●extensor plantar response ●Severe cerebellar atrophy ●Moderately elevated alpha-fetoprotein ●Genetic analysis of the SETX gene Continuum (Minneap Minn) 2013;19(5):1312–1343.

MRI of cerebellar atrophy

Acknowledgements Anna DePold Hohler, M.D. Associate Professor of Neurology, Assistant Dean, Office of Academic Affairs James Otis, M.D. Associate Professor of Neurology Director, Residency Program Marie Saint-Hilaire, M.D. Associate Professor of Neurology at BUMC, Director of the Parkinson’s Disease and Movement Disorders Center and the APDA Center for Advanced Research at Boston University Medical Center Samuel Frank, M.D. Associate Professor of Neurology at Boston University Medical Center, Director of Clinical Care at Jamaica Plain VA Medical Center Dystonia Clinic Samuel Ellias, M.D. Associate Professor of Neurology, Neurological Director, Deep Brain Stimulation Program at Boston University Medical Campus Rafeal Zuzuarregui, M.D. Movement Disorder Fellow 2015, Boston University Medical Center Anindita Deb, M.D. Movement Disorder Fellow 2014, Boston University Medical Center Keith J. Ciccone, BS, LPN, Nurse Coordinator of the Deep Brain Stimulation Program