title: Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study.
abstract: BACKGROUND
  Juvenile neuronal ceroid lipofuscinosis is an inherited, autosomal recessive, progressive, neurodegenerative disorder of childhood. It belongs to the lysosomal storage diseases, which manifest with loss of vision, seizures, and loss of cognitive and motor functions, and lead to premature death. Imaging studies have shown cerebral and cerebellar atrophy, yet no previous studies evaluating particularly hippocampal atrophy have been published. This study evaluates the hippocampal volumes in adolescent juvenile neuronal ceroid lipofuscinosis patients in a controlled 5-year follow-up magnetic resonance imaging study.
  
  
  METHODS
  Hippocampal volumes of eight patients (three female, five male) and 10 healthy age- and sex-matched control subjects were measured from two repeated magnetic resonance imaging examinations. Three male patients did not have controls and were excluded from the statistics. In the patient group, the first examination was performed at the mean age of 12.2 years and the second examination at the mean age of 17.3 years. In the control group, the mean ages at the time of examinations were 12.5 years and 19.3 years.
  
  
  RESULTS
  Progressive hippocampal atrophy was found in the patient group. The mean total hippocampal volume decreased by 0.85 cm³ during the 5-year follow-up in the patient group, which corresponds to a 3.3% annual rate of volume loss. The whole brain volume decreased by 2.9% per year. The observed annual rate of hippocampal atrophy also exceeded the previously reported 2.4% annual loss of total gray matter volume in juvenile neuronal ceroid lipofuscinosis patients.
  
  
  CONCLUSIONS
  These data suggest that progressive hippocampal atrophy is one of the characteristic features of brain atrophy in juvenile neuronal ceroid lipofuscinosis in adolescence.
authors.affiliation: Department of Radiology, HUS Medical Imaging Center, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland. Electronic address: anna.tokola@fimnet.fi.
authors.forename: Anna M
authors.initials: AM
authors.lastname: Tokola
authors.affiliation: Department of Radiology, HUS Medical Imaging Center, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
authors.forename: Eero K
authors.initials: EK
authors.lastname: Salli
authors.affiliation: Clinic for the Intellectually Disabled, Department of Social Services and Health Care, City of Helsinki, Helsinki, Finland.
authors.forename: Laura E
authors.initials: LE
authors.lastname: Åberg
authors.affiliation: Department of Radiology, HUS Medical Imaging Center, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
authors.forename: Taina H
authors.initials: TH
authors.lastname: Autti
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000254:growth & development / Q000473:pathology; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006624:Hippocampus / Q000254:growth & development / Q000473:pathology*; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D009929:Organ Size; D055815:Young Adult
chemical_list: D000927:Anticonvulsants
keywords: Batten disease; CLN3; JNCL; MRI volumetry; NCL; hippocampus; juvenile neuronal ceroid lipofuscinosis; lysosomal storage disease