Biography
I am a Pediatric Neurologist who specializes in movement disorders starting in childhood. I was attracted to pediatric neurology when I was a medical student and realized that I had an intellectual interest in the brain but enjoyed the challenges and rewards of caring for children. As a movement disorders specialist, I care for children with a variety of conditions that impair voluntary movements, cause involuntary movements, or both. Such conditions include dystonia, chorea, tics, myoclonus, tremor, stereotypies, parkinsonism, and combinations of these such as may occur in conditions like cerebral palsy. In addition to movement disorders, neurodegenerative diseases are also a focus of my clinical practice.
My research has been focused on understanding brain mechanisms involved in the control of movement or where disorders cause involuntary movements. The research involves neurophysiology, direct measurement of movement abnormalities, rating scales, and longitudinal assessments over the course of development and disease. More recently my work as included clinical trials and studies of factors that impact the function of children with movement disorders.
In addition to my clinical practice and research, I direct the Child Neurology residency at the University of Rochester. I serve on a number of advisory boards including the Tourette Syndrome Association, the Dystonia Medical Research Foundation, the Batten Disease Support and Research Association, the NINDS Board of Scientific Counselors, and the Pediatric Advisory Committee of the FDA. I am also an Associate Editor of Neurology.
Research
My research program focuses on three areas. First is the function of the basal ganglia in normal control of movement and the pathophysiology of basal ganglia disorders characterized by abnormal involuntary movements. The basal ganglia are affected by many disorders beginning in childhood including cerebral palsy, CNS infections, metabolic disorders and other genetic conditions. It is well known that children with diseases involving the basal ganglia have abnormal body postures, slowing of movement, involuntary movements, or a combination of these abnormalities. However, the pathophysiology of these abnormalities is poorly understood. We have hypothesized that the basal ganglia normally act to select desired movement patterns and inhibit competing movements. Deranged basal ganglia output results in unwanted competing motor patterns or difficulty selecting desired motor patterns.
Second, is Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease), a neurodegenerative disease of childhood. Our research has focused on the natural history of the disease and is now pursuing potential disease modifying therapeutics.
Third, is the impact of Tourette Syndrome on children, their families, and the community.
An additional line of research involves the study of children with a degenerative neurological disorder called Batten Disease (aka Neuronal Ceroid Lipofuscinosis). We are investigating the natural history and rate of progression of neurological symptoms in this disorder.
Awards
2015
Oliver Sacks Award for Excellence
Sponsor: Tourette Association of America
2015
UR Nominee for 2015 Arnold P. Gold Foundation Humanism Award
2013
URMC Diversity Award
Sponsor: University of Rochester Medical Center
2011
Faculty Mentoring Award for Mentoring of Clinical Science Trainees
Sponsor: University of Rochester School of Medicine and Dentistry
2011
Commendation for Third Year Teaching
Sponsor: University of Rochester School of Medicine and Dentistry
2011
Compassionate Doctor Award
Sponsor: Patient's Choice
2009 - Present
America's Top Doctors
Sponsor: Castle Connolly Medical Ltd.
2009 - Present
Elected Faculty Member
Sponsor: Alpha Omega Alpha
2008 - Present
Patient's Choice Award
Sponsor: Patient's Choice
2008
Teacher Recognition Award
Sponsor: American Academy of Neurology
2007 - Present
Who's Who in America
2005 - Present
Best Doctors in America
Sponsor: America's Best Doctors
2005
Neurology Faculty Teaching Award
Sponsor: Department of Neurology, University of Rochester
2004 - Present
Fellow
Sponsor: American Academy of Neurology
2002 - Present
Fellow, American Neurological Association
2002 - Present
Fellow, American Academy of Pediatrics
2002
Derek Denny-Brown Neurological Scholar Award, American Neurological Association
1993
St. Louis Children's Hospital Housestaff Teaching Award
1989
Irwin Levy Prize in Neurology, Washington University
1987
O'Leary Prize for Neuroscience Research, Washington University
1980
Walkley Prize for Psychology Research, Wesleyan University
1980
High Honors for Senior Thesis, Wesleyan University
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Publications
Journal Articles
8/2018
Gilbert DL, Mink JW, Singer HS. "A Pediatric Neurology Perspective on Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection and Pediatric Acute-Onset Neuropsychiatric Syndrome." The Journal of pediatrics.. 2018 Aug 0; 199:243-251. Epub 2018 May 21.
6/20/2018
Augustine EF, Beck CA, Adams HR, Defendorf S, Vierhile A, Timm D, Weimer JM, Mink JW, Marshall FJ. "Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)." JIMD reports.. 2018 Jun 20; Epub 2018 Jun 20.
6/2018
Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT. "Phenotypes, genotypes, and the management of paroxysmal movement disorders." Developmental medicine and child neurology.. 2018 Jun 0; 60(6):559-565. Epub 2018 Mar 30.
Books & Chapters
2017
Book Title: Non-parksinosnian Movement Disorders
Author List: Hall DA, Barton BR., eds.
Edited By: Gross RA, Mink JW
Published By: Wiley-Blackwell 2017 in Oxford
2017
Chapter Title: Movement Disorders: An Overview
Book Title: Swaiman's Pediatric Neurology
Author List: Mink JW, Sanger TD
Edited By: Swaiman KF, et al.
Published By: Elsevier 2017
2017
Chapter Title: Paroxysmal Dyskinesias
Book Title: Swaiman's Pediatric Neurology
Author List: Silveira Moriyama L, Warner TT, Mink, JW
Edited By: Swaiman KF, et al.
Published By: Elsevier 2017
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