title: A 35-year-old female with growth and developmental retardation, progressive ataxia, dementia and visual loss.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, the University of Tokyo, Japan. mizuguchi-tky@umin.ac.jp
authors.forename: Masashi
authors.initials: M
authors.lastname: Mizuguchi
authors.forename: Masayuki
authors.initials: M
authors.lastname: Itoh
mesh_terms: D000328:Adult; D001259:Ataxia / Q000209:etiology*; D001921:Brain / Q000473:pathology; D003057:Cockayne Syndrome / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D003704:Dementia / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006130:Growth Disorders / Q000209:etiology*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D014057:Tomography, X-Ray Computed; D014786:Vision Disorders / Q000209:etiology*