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Jonathan W. Mink, M.D., Ph.D.

Contact Information

Phone Numbers

Appointment: (585) 275-2808

Fax: (585) 275-3683

URMFGA member of the University of Rochester Medical Faculty Group

groupAn Accountable Health Partner

assignmentAccepting New Patients

Locations

200 East River Rd
Rochester, NY 14623-1212

Pediatric Neurology: (585) 275-2808

Faculty Appointments

Patient Care Settings

Neurology, Pediatrics

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.

Credentials

Specialties

  • Neurology with Special Qualifications in Child Neurology - American Board of Psychiatry and Neurology

Education

1989
MD, PhD | Washington University School of Medicine

Post-doctoral Training & Residency

07/01/1992 - 06/30/1994
Fellowship in Pediatric Neurology at St Louis Children's Hospital

07/01/1991 - 06/30/1992
Residency in Neurology at Barnes Hospital

07/01/1989 - 06/30/1991
Internship in Pediatrics at St Louis Children's Hospital

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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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Patents

Patent Title: Neuronal Ceroid Lipofuscinosis Study Group Review of Symptoms
Patent #: TXu 2-182-000
Issue Date: Jan 21, 2020
Country: United States
Invented By: Erika Augustine, Frederick J Marshall, Jonathan W Mink

Patent Title: Neuronal Ceroid Lipofuscinosis Study Group Demographics/Diagnostics/Medical History
Patent #: TXu 2-181-998
Issue Date: Jan 21, 2020
Country: United States
Invented By: Erika Augustine, Frederick J Marshall, Jonathan W Mink

Patent Title: Neruonal Ceroid Lipofuscinosis (NCL) Study Group Unified Batten Disease Rating Scale
Patent #: TXu 2-181-962
Issue Date: Jan 21, 2020
Country: United States
Invented By: Erika Augustine, Frederick J Marshall, Jonathan W Mink

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Publications

Journal Articles

8/28/2021
Masten MC, Corre C, Paciorkowski AR, Vierhile A, Adams HR, Vermilion J, Zimmerman GA, Augustine EF, Mink JW. "A Diagnostic Confidence Scheme for CLN3 Disease." Journal of inherited metabolic disease.. 2021 Aug 28; Epub 2021 Aug 28.

7/15/2021
Sirica D, Hewitt AL, Tarolli CG, Weber MT, Zimmerman C, Santiago A, Wensel A, Mink JW, Lizárraga KJ. "Neurophysiological biomarkers to optimize deep brain stimulation in movement disorders." Neurodegenerative disease management.. 2021 Jul 15; Epub 2021 Jul 15.

4/21/2021
Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE. "Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients." Orphanet journal of rare diseases.. 2021 Apr 21; 16(1):185. Epub 2021 Apr 21.

Books & Chapters

2017
Book Title: Non-parkinsonian 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

VIEW ALL PUBLICATIONS

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