Research Bio
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.
| Faculty Mentoring Award for Mentoring of Clinical Science Trainees | University of Rochester School of Medicine and Dentistry |
2011 |
| Commendation for Third Year Teaching | University of Rochester School of Medicine and Dentistry |
2011 |
| Compassionate Doctor Award | Patient's Choice |
2011 |
| Elected Faculty Member | Alpha Omega Alpha |
2009 - Present |
| America's Top Doctors | Castle Connolly Medical Ltd. |
2009 - Present |
| Teacher Recognition Award | American Academy of Neurology |
2008 |
| Patient's Choice Award | Patient's Choice |
2008 - Present |
| Who's Who in America |
2007 - Present |
| Neurology Faculty Teaching Award | Department of Neurology, University of Rochester |
2005 |
| Best Doctors in America |
2005 - Present |
| Fellow | American Academy of Neurology |
2004 - Present |
| Elected Member, American Neurological Association |
2002 - Present |
| Derek Denny-Brown Neurological Scholar Award, American Neurological Association |
2002 |
| Fellow, American Academy of Pediatrics |
2002 - Present |
| St. Louis Children's Hospital Housestaff Teaching Award |
1993 |
| Irwin Levy Prize in Neurology, Washington University |
1989 |
| O'Leary Prize for Neuroscience Research, Washington University |
1987 |
| High Honors for Senior Thesis, Wesleyan University |
1980 |
| Walkley Prize for Psychology Research, Wesleyan University |
1980 |
2013 May 23
Augustine EF, Blackburn J, Pellegrino JE, Miller R, Mink JW. "Myoclonus-dystonia syndrome associated with Russell Silver syndrome." Movement disorders : official journal of the Movement Disorder
Society. 2013 May 23; Epub 2013 May 23. |
2013 May 16
Scahill L, Woods DW, Himle MB, Peterson AL, Wilhelm S, Piacentini JC, McNaught K, Walkup JT, Mink JW. "Current controversies on the role of behavior therapy in Tourette syndrome." Movement disorders : official journal of the Movement Disorder
Society. 2013 May 16; Epub 2013 May 16. |
2013 May 6
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. "Phenomenology and classification of dystonia: A consensus update." Movement disorders : official journal of the Movement Disorder
Society. 2013 May 6; Epub 2013 May 06. |
2013 Apr 26
de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, Mink JW, . "Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates." Contemporary clinical trials. 2013 Apr 26; 35(2):48-54. Epub 2013 Apr 26. |
2013 Apr 17
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. "NCL diseases - clinical perspectives." Biochimica et biophysica acta. 2013 Apr 17; Epub 2013 Apr 17. |
