title: Quantitative t2 measurements in juvenile and late infantile neuronal ceroid lipofuscinosis.
abstract: OBJECTIVE
  The two most prevalent forms of neuronal ceroid lipofuscinosis (NCL) are the juvenile form (Batten disease, CLN3) and late infantile form (Jansky-Bielschowsky disease, CLN2). The aim of this study was to compare quantitative T2-values of brain tissue in CLN2 and CLN3 patients with reference values from age-matched normal subjects.
  
  
  METHODS
  Twenty-three CLN2 (n = 6) and CLN3 (n = 17) patients (m:f = 11:12) underwent MRI examination including a multiecho T2 sequence. Quantitative T2-values were measured in six defined regions of interest (ROIs) in the calculated quantitative T2 maps within the white matter (WM) and gray matter (GM). The extracted quantitative T2-values were compared with reference values from healthy children and young adults. Informed consent was obtained from the patients or their parents for all patients.
  
  
  RESULTS
  Statistical analysis revealed elevated quantitative T2-values in nearly all ROIs placed in the WM of the CLN2 patients. In contrast to this finding, no significant differences were found for the quantitative T2-values of the CLN3 patients compared to the age-matched healthy controls in any of the defined WM ROIs. Both groups exhibited no significant alterations of the quantitative T2-values in the GM ROIs compared to the healthy subjects.
  
  
  CONCLUSIONS
  Alterations of quantitative T2-values in the cerebral WM may not be a reliable sign to confirm the diagnosis in CLN3 patients but could prove valuable for diagnosis confirmation, follow-up examinations, and longitudinal monitoring of the disease progression in CLN2 patients.
authors.affiliation: Department of Neuroradiology, University Medical Center Hamburg-Eppendorf (UKE), Universitätsklinik Hamburg Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.
authors.forename: Alvaro
authors.initials: A
authors.lastname: Paniagua Bravo
authors.forename: N D
authors.initials: ND
authors.lastname: Forkert
authors.forename: A
authors.initials: A
authors.lastname: Schulz
authors.forename: U
authors.initials: U
authors.lastname: Löbel
authors.forename: J
authors.initials: J
authors.lastname: Fiehler
authors.forename: X
authors.initials: X
authors.lastname: Ding
authors.forename: J
authors.initials: J
authors.lastname: Sedlacik
authors.forename: M
authors.initials: M
authors.lastname: Rosenkranz
authors.forename: E
authors.initials: E
authors.lastname: Goebell
mesh_terms: D000293:Adolescent; D000626:Aminopeptidases / Q000235:genetics; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D002648:Child; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000235:genetics; D005260:Female; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D018832:Molecular Chaperones / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000473:pathology*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D057057:Serine Proteases / Q000235:genetics; D000091346:Tripeptidyl-Peptidase 1; D055815:Young Adult
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D000091346:Tripeptidyl-Peptidase 1; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human