title: Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
abstract: BACKGROUND
  Glutaric aciduria type I (GA-I) is a cerebral organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase and is characterized biochemically by an accumulation of putatively neurotoxic dicarboxylic metabolites. The majority of untreated patients develops a complex movement disorder with predominant dystonia during age 3-36 months. Magnetic resonance imaging (MRI) studies have demonstrated striatal and extrastriatal abnormalities.
  
  
  OBJECTIVE
  The major aim of this study was to elucidate the complex neuroradiological pattern of patients with GA-I and to associate the MRI findings with the severity of predominant neurological symptoms. In 180 patients, detailed information about the neurological presentation and brain region-specific MRI abnormalities were obtained via a standardized questionnaire.
  
  
  RESULTS
  Patients with a movement disorder had more often MRI abnormalities in putamen, caudate, cortex, ventricles and external CSF spaces than patients without or with minor neurological symptoms. Putaminal MRI changes and strongly dilated ventricles were identified as the most reliable predictors of a movement disorder. In contrast, abnormalities in globus pallidus were not clearly associated with a movement disorder. Caudate and putamen as well as cortex, ventricles and external CSF spaces clearly collocalized on a two-dimensional map demonstrating statistical similarity and suggesting the same underlying pathomechanism.
  
  
  CONCLUSIONS
  This study demonstrates that complex statistical methods are useful to decipher the age-dependent and region-specific MRI patterns of rare neurometabolic diseases and that these methods are helpful to elucidate the clinical relevance of specific MRI findings.
authors.affiliation: SFG: Faculty of Applied Psychology, SRH University of Applied Sciences, Heidelberg, Germany.
authors.forename: Sven F
authors.initials: SF
authors.lastname: Garbade
authors.forename: Cheryl R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: Mübeccel
authors.initials: M
authors.lastname: Demirkol
authors.forename: Gülden
authors.initials: G
authors.lastname: Gökçay
authors.forename: Antonia
authors.initials: A
authors.lastname: Ribes
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.forename: Alberto B
authors.initials: AB
authors.lastname: Burlina
authors.forename: Peter
authors.initials: P
authors.lastname: Burgard
authors.forename: Stefan
authors.initials: S
authors.lastname: Kölker
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000628:therapy*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D019538:Health Care Surveys; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D015233:Models, Statistical; D009422:Nervous System Diseases / Q000209:etiology / Q000473:pathology; D009460:Neurologic Examination; D011795:Surveys and Questionnaires; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D050770:Glutaryl-CoA Dehydrogenase