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

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My research program focuses on 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 comprise several nuclei in the forebrain, diencephalon, and midbrain that are thought to play an important role in the control of posture and movement. 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.

Ongoing experiments include several lines of research into normal basal ganglia function and the pathophysiology of involuntary movements following basal ganglia damage. 1) We are investigating the pathophysiology of dystonia and parkinsonism by studying the activity of basal ganglia neurons in these conditions. 2) We are using quantitative motion analysis and electromyography to investigate the pathophysiology of dystonia in children. 3) We are investigating normal basal ganglia function by studying neuronal activity in the supplementary motor cortex before and during inactivation of the basal ganglia output. 4) We are collaborating with colleagues at Washington University to investigate the mechanism by which deep brain stimulation improves essential tremor and Parkinson disease.

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.

Selected References

Hershey T, Revilla FJ, Wernle AR, McGee-Minnich L, Antenor JV, Videen TO, Dowling JL, Mink JW, Perlmutter JS. Cortical and subcortical blood flow effects of subthalamic nucleus stimulation in PD. Neurology, 2003; 61:816-821.

Mink JW. The basal ganglia and involuntary movements: impaired inhibition of competing motor patterns. Arch Neurol 2003; 60:1365-1368.

Perlmutter JS, Mink JW. Dysfunction of dopaminergic systems in dystonia. In: Dystonia 4. Fahn S, Hallett M, DeLong M, eds., Philadelphia: Lippencott Williams and Wilkins, Adv Neurol, 2004; 94:163-170.

Marshall FJ, De Blieck EA, Mink JW, Dure L, Adams H, Messing S, Rothberg PG, Levy E, McDonough T, DeYoung J, Wang M, Ramirez-Monealegre D, Kwon JM, Pearce DA. A clinical rating scale for Batten disease: Reliable and relevant for clinical trials. Neurology, 2005; 65:275- 279.

Yang ML, Fullwood E, Goldstein J, Mink JW. Masturbation in infancy and early childhood presenting as a movement disorder: 12 cases and a review of the literature. Pediatrics, 2005; in press.

Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Neurosci Lett; 387:111-114.

Current Appointments

• Professor - Department of Neurology (SMD)
• Professor - Department of Brain/Cognitive Sciences (RC)
• Professor - Department of Neurobiology and Anatomy (SMD)
• Professor - Department of Pediatrics (SMD)