title: Grey matter alterations in patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN).
abstract: BACKGROUND
  Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a rare heritable disease marked by dystonia and loss of movement control. In contrast to the well-known "Eye-of-the-Tiger" sign affecting the globus pallidus, little is known about other deviations of brain morphology, especially about grey matter changes.
  
  
  METHODS
  We investigated 29 patients with PKAN and 29 age-matched healthy controls using Magnet Resonance Imaging and Voxel-Based Morphometry.
  
  
  RESULTS
  As compared to controls, children with PKAN showed increased grey matter density in the putamen and nucleus caudatus and adults with PKAN showed increased grey matter density in the ventral part of the anterior cingulate cortex. A multiple regression analysis with dystonia score as predictor showed grey matter reduction in the cerebellum, posterior cingulate cortex, superior parietal lobule, pars triangularis and small frontal and temporal areas and an analysis with age as predictor showed grey matter decreases in the putamen, nucleus caudatus, supplementary motor area and anterior cingulate cortex.
  
  
  CONCLUSIONS
  The grey matter increases may be regarded as a secondary phenomenon compensating the increased activity of the motor system due to a reduced inhibitory output of the globus pallidus. With increasing age, the grey matter reduction of cortical midline structures however might contribute to the progression of dystonic symptoms due to loss of this compensatory control.
authors: Department of Neurology, Medizinische Hochschule, Hannover, Germany.
authors: Rea
authors: R
authors: Rodriguez-Raecke
authors: Department of Neurology, CEDIMAT, Santo Domingo, República Dominicana.
authors: Pedro
authors: P
authors: Roa-Sanchez
authors: Department of Radiology, CEDIMAT, Santo Domingo, República Dominicana.
authors: Herwin
authors: H
authors: Speckter
authors: Department of Radiology, CEDIMAT, Santo Domingo, República Dominicana.
authors: Rafael
authors: R
authors: Fermin-Delgado
authors: Department of Research, CEDIMAT, Santo Domingo, República Dominicana.
authors: Eddy
authors: E
authors: Perez-Then
authors: Department of Radiology, CEDIMAT, Santo Domingo, República Dominicana.
authors: Jairo
authors: J
authors: Oviedo
authors: Department of Radiology, CEDIMAT, Santo Domingo, República Dominicana. Electronic address: peter.stoeter@gmx.de.
authors: Peter
authors: P
authors: Stoeter
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002531:Cerebellum / Q000473:pathology; D002648:Child; D018450:Disease Progression; D005260:Female; D066128:Gray Matter / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000201:enzymology / Q000473:pathology* / Q000503:physiopathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000378:metabolism*; D011595:Psychomotor Agitation / Q000473:pathology* / Q000503:physiopathology; D055815:Young Adult
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase
keywords: Grey matter alterations; Pantothenate Kinase Associated Neurodegeneration; Voxel-Based Morphology