title: Adult-onset neuronal ceroid lipofuscinosis type B in an African-American.
abstract: We describe a rare case of adult-onset neuronal ceroid lipofuscinosis (NCL) type B with probable autosomal dominant inheritance, exhibiting behavioral and cognitive abnormalities and extrapyramidal findings. Ultrastructural examination revealed abundant fingerprint profiles in several cell types. To our knowledge, this is the first reported case of an African-American with adult-onset NCL.
authors.affiliation: Department of Neurology, School of Medicine, Boston University Medical Center, 715 Albany Street, Boston, MA 02118, USA.
authors.forename: Cristina S
authors.initials: CS
authors.lastname: Ivan
authors.forename: Marie H
authors.initials: MH
authors.lastname: Saint-Hilaire
authors.forename: Thomas G
authors.initials: TG
authors.lastname: Christensen
authors.forename: Jeff M
authors.initials: JM
authors.lastname: Milunsky
mesh_terms: D000328:Adult; D001741:Black or African American; D042783:Endothelial Cells / Q000473:pathology / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D046529:Microscopy, Electron, Transmission / Q000379:methods; D009130:Muscle, Smooth / Q000473:pathology / Q000648:ultrastructure*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000473:pathology* / Q000503:physiopathology; D009483:Neuropsychological Tests