PowerPoint - The Movement Disorder Society

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
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
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

similar documents