@article{TEXTUAL,
      recid = {10558},
      author = {McTaggart, James S. and Jenkinson, Ned and Brittain,  John-Stuart and Greeley, Siri A. W. and Hattersley, Andrew  T. and Ashcroft, Frances M.},
      title = {Gain-of-Function Mutations in the  K<sub>ATP</sub> Channel (KCNJ11) Impair  Coordinated Hand-Eye Tracking},
      journal = {PLOS ONE},
      address = {2013-04-23},
      number = {TEXTUAL},
      abstract = {<p>Background: Gain-of-function mutations in the  ATP-sensitive potassium channel can cause permanent  neonatal diabetes mellitus (PNDM) or neonatal diabetes  accompanied by a constellation of neurological symptoms  (iDEND syndrome). Studies of a mouse model of iDEND  syndrome revealed that cerebellar Purkinje cell electrical  activity was impaired and that the mice exhibited poor  motor coordination. In this study, we probed the hand-eye  coordination of PNDM and iDEND patients using visual  tracking tasks to see if poor motor coordination is also a  feature of the human disease.</p><p>Methods: Control  participants (n = 14), patients with iDEND syndrome (n = 6  or 7), and patients with PNDM (n = 7) completed three  computer-based tasks in which a moving target was tracked  with a joystick-controlled cursor. Patients with PNDM and  iDEND were being treated with sulphonylurea drugs at the  time of testing.</p><p>Results: No differences were seen  between PNDM patients and controls. Patients with iDEND  syndrome were significantly less accurate than controls in  two of the three tasks. The greatest differences were seen  when iDEND patients tracked blanked targets, i.e. when  predictive tracking was required. In this task, iDEND  patients incurred more discrepancy errors (p = 0.009) and  more velocity errors (p  = 0.009) than  controls.</p><p>Conclusions: These results identify  impaired hand-eye coordination as a new clinical feature of  iDEND. The aetiology of this feature is likely to involve  cerebellar dysfunction. The data further suggest that  sulphonylurea doses that control the diabetes of these  patients may be insufficient to fully correct their  neurological symptoms.</p>},
      url = {http://knowledge.uchicago.edu/record/10558},
}