Jonathan Mink

JONATHAN MINK

Pediatric Neurologist, Frederick A. Horner, MD Endowed Professor in Pediatric Neurology, Professor of Neurology, Neurobiology & Anatomy, Brain & Cognitive Sciences, and Pediatrics, 
Chief, Division of Child Neurology and Vice Chair, Department of Neurology, University of Rochester, Rochester, NY USA.
E-mail: Jonathan_Mink@urmc.rochester.edu

Dr. Mink is a pediatric neurologist and neuroscientist at the University of Rochester. He has active research programs in the physiology of motor control, the pathophysiology and treatment of movement disorders, and experimental therapeutics for neurodegenerative diseases of childhood. His clinical interests include movement disorders and neurodegenerative disease in children. He has been interested in the neuronal ceroid lipofusinoses (NCLs; Batten disease) and has conducted clinical research in Juvenile NCL for the past 13 years. Dr. Mink serves on a number of medical and scientific advisory boards including the Batten Disease Support and Research Association. the Pediatric Neurotransmitter Disease Association, and the US National Advisory Neurological Disorders and Stroke Council. He is co-chair of the scientific

Talk: Inflammation in the Neuronal Ceroid Lipofusinoses (NCL)

The NCLs consist of more than 10 different lysosomal storage disorders characterized pathologically by accumulation of an autofluorescent material in the lysosomes and clinically by a constellation of symptoms that typically includes vision loss, progressive dementia, epilepsy, and a movement disorder. Over the past 10 years, several lines of evidence have emerged indicated that immune mechanisms and inflammation are likely to play a role in the pathobiology of Juvenile NCL (CLN3 disease) and in other forms of NCL. These data will be reviewed. Although neuroinflammation is not the primary pathological mechanism in these disorders, it may contribute to disease progress and provide an avenue for disease- modifying therapy. Indeed, immunomodulation has been shown to be neuroprotective in a rodent model of JNCL and is under investigation in human subjects. Preclinical studies in other forms of NCL have also shown promise for immunomodulation as a disease modifying therapy.