title: Brain imaging in Kufs disease type B: case reports.
abstract: BACKGROUND
  The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF. The neuroradiological characteristics of this uncommon disease have not yet been outlined.
  
  
  METHODS
  We hereby report the brain MRI features in two Caucasian women who carried homozygous mutations in CTSF, providing a short review of the neuroradiological findings of other common NCLs. Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline.
  
  
  CONCLUSIONS
  White matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF.
authors.affiliation: Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, Latina, Italy. rodifa@gmail.com.
authors.forename: Roberto
authors.initials: R
authors.lastname: Di Fabio
authors.affiliation: Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy. claudio.colonnese@uniroma1.it.|IRCCS Neuromed, Pozzilli, Italy. claudio.colonnese@uniroma1.it.
authors.forename: Claudio
authors.initials: C
authors.lastname: Colonnese
authors.affiliation: IRCCS Stella Maris, Pisa, Italy. filippo3364@gmail.com.
authors.forename: Filippo Maria
authors.initials: FM
authors.lastname: Santorelli
authors.affiliation: ASL, Fondi, Italy. pestilloliliana@virgilio.it.
authors.forename: Liliana
authors.initials: L
authors.lastname: Pestillo
authors.affiliation: Department of Medical-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, Latina, Italy. francesco.pierelli@uniroma1.it.|IRCCS Neuromed, Pozzilli, Italy. francesco.pierelli@uniroma1.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Pierelli
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D003072:Cognition Disorders / Q000209:etiology*; D003337:Corpus Callosum / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000503:physiopathology*