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UP & COMING: Jeff Waugh, MD, PhD: On Deciphering Dystonia in Children and Adults

Rukovets, Olga

doi: 10.1097/01.NT.0000417970.77772.c4

Inspired by the writings of Oliver Sacks, Jeff Waugh, MD, PhD, saw in neurology and neurological disease a decidedly unique representation of the human condition. Dr. Waugh, a recent recipient of the American Brain Foundation Clinical Research Training Fellowship, still holds firmly to that curiosity that has shaped much of his career.

Currently, he is in his fifth and final year of residency at Children's Hospital Boston. Dr. Waugh completed his undergraduate degree in biochemistry at Washington University in St. Louis, and then graduated from the University of Texas Southwestern at Dallas with both his MD and a PhD in neuroscience in 2007.

Dr. Waugh plans to study dystonia in children and adults — to find out whether the same changes in brain connectivity are present in both groups. Here, he talks to Neurology Today about the “eureka” moment that caused him to shift gears from behavioral neurology to movement disorders, and how he stays motivated.

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I'm interested in pediatric dystonia.

Dystonia is a condition that we've long recognized in neurology but we don't yet have a clear mechanism to explain it — that's especially true in pediatric dystonia. We are focused on primary torsion dystonia, also known as dystonia musculorum deformans. We want to figure out whether some of the long-term changes in brain connectivity that are seen in adults with this type of dystonia are also present in children — whether these pathological changes are something that's primary and that explains the dystonia, whether these changes are secondary to lifelong disability, or whether they are something that is correlated but not causative. No one knows the answers to those basic questions yet.

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In the beginning, we will be doing DTI and fMRI in a set of adult patients with cervical dystonia, purely to learn the techniques and study design. I will be doing a series of studies looking at the age at onset and the severity of symptoms, and correlating that with some of the changes in connectivity that we previously identified in patients with cervical dystonia. We estimate that this will take a year. In year two I will move on to studying children with newly onset dystonia.

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As with many of my colleagues, it was one patient who set me off my interest in dystonia. In my first month in the ICU, I had a child who presented with a dystonic storm (status dystonicus). This child was in incredible pain and was completely debilitated — she was cramped up on the bed and unable to do more than cry.

When we were able to adequately treat her pain, she could communicate just like any other child. This was the most difficult part of caring for her: the realization that she was a cognitively normal child, just trapped in her own body by dystonia.

I started off on a reading binge then, trying to figure out what was wrong [in this patient], where the pathology was, trying to localize the lesion. I was stunned to find out that we just don't know. We know the genetic correlations for many of the primary dystonias, but we don't why that mutation leads to the phenotype of dystonia. It's a great scientific problem, a great clinical puzzle, and there's tremendous opportunity to help these children do better.

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I have two research mentors that have been instrumental in both applying for the AAN fellowship and for guiding me as I found my project: Dr. Anne Blood, who is my primary research mentor, and Dr. Nutan Sharma, who is both my primary clinical mentor and also a co-research mentor. Both Drs. Sharma and Blood are affiliated with MGH and with the Martinos Imaging Center.

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When I started off my neurology residency, I had done my PhD work in the basal ganglia on the pharmacology of dopamine, and I thought that I was going to continue my interest in the basal ganglia. Behavioral neurology seemed the way to go. But I found pretty quickly that the assessments that we could use for behavioral neurology were pretty far removed from basal ganglia circuitry. The disorders are fascinating, but to study them at a molecular or connectivity level is very difficult.

I was reading a review paper by “Buz” Jinnah (then of Johns Hopkins, now of Emory), on the physiology of the basal ganglia in Lesch-Nyhan syndrome, a devastating genetic disorder where young boys progressively become dystonic and have compulsive self-mutilation. In this review, he made a case that the basal ganglia have many information streams that are processed in the same molecular circuitry, and that the movement disorder phenotype is just as relevant to understanding Lesch-Nyhan as the behavioral phenotype. At that moment, I realized that I could do all of the research that I wanted: I could have the molecular approach in movement disorders just as well as I could study behavioral neurology. From that point on, I've been a movement disorders guy.

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I have two wonderful little girls, ages 5 and 18 months, who keep me pretty busy. I'm a rock climber; I really enjoy getting out to the mountains and climbing. I am also a woodworker: I build small furniture, boxes, and household things — more for my own pleasure than for anyone else to see.

American Brain Foundation Clinical Research Training Fellowships are funded by American Academy of Neurology and the American Brain Foundation, and provide $55,000 per year for two years, plus $10,000 per year for tuition to support formal education in clinical research methodology at the fellow's institution or elsewhere. Twelve fellowships were awarded for 2012, and more than 80 training fellowships have been awarded through the program since its inception in 1996. For more information about the program, visit

Jeff Waugh, MD, PhD, a 2012 recipient of the American Brain Foundation Clinical Research Training Fellowship, discusses his interest in dystonia, and his goal of understanding the changes in brain connectivity in both children and adults with the disorder:

©2012 American Academy of Neurology