title: The Heidenhain variant of Creutzfeldt-Jakob disease and concomitant tau pathology: A case report.
abstract: The Heidenhain form of Creutzfeldt-Jakob disease (CJD) is a rare CJD variant with predominantly visual symptoms in the early stages. Clinical manifestations of metamorphopsia, hemianopia and Balint's syndrome correlate with the involvement of the posterior cortical regions. A 71-year old healthy and very active man was admitted because of impaired visual acuity, hemianopia, and gait disturbance progressing over one week. MRI found typical cortical hyperintensities in the occipital regions while rhythm slowing and sharp waves were seen in the occipital regions on EEG. Protein 14-3-3 was detected in the cerebrospinal fluid. Postmortem neuropathology revealed typical histopathological changes consistent with CJD. Moreover, we found deposits of phosphorylated tau protein in the limbic regions that met the criteria for primary age-related tauopathy (PART); representing an additional and interesting finding in our case.
authors.affiliation: Department of Neurology, Regional Hospital Pardubice, Czech Republic.
authors.forename: Edvard
authors.initials: E
authors.lastname: Ehler
authors.affiliation: Department of Neurology, Regional Hospital Pardubice, Czech Republic.
authors.forename: Michael
authors.initials: M
authors.lastname: Pipka
authors.affiliation: Department of Neurology, Regional Hospital Pardubice, Czech Republic.
authors.forename: Alena
authors.initials: A
authors.lastname: Meleková
authors.affiliation: Faculty of Health Studies, University of Pardubice, Pardubice, Czech Republic; Department of Neurology, Regional Hospital Pardubice, Czech Republic.
authors.forename: Petra
authors.initials: P
authors.lastname: Mandysová
authors.affiliation: Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and the General University Hospital, Prague, Czech Republic.
authors.forename: Silvie
authors.initials: S
authors.lastname: Johanidesová
authors.affiliation: Department of Pathology and Molecular Medicine, Thomayer Hospital, Prague, Czech Republic; Department of Pathology, First Faculty of Medicine, Charles University in Prague and the General University Hospital, Prague, Czech Republic.
authors.forename: Radoslav
authors.initials: R
authors.lastname: Matěj
authors.affiliation: Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and the General University Hospital, Prague, Czech Republic; Department of Neurology, Thomayer Hospital, Prague, Czech Republic.
authors.forename: Robert
authors.initials: R
authors.lastname: Rusina
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid*; D000368:Aged; D001921:Brain / Q000473:pathology; D015897:Comorbidity; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging; D004569:Electroencephalography; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D009778:Occipital Lobe / Q000473:pathology; D010766:Phosphorylation; D024801:Tauopathies / Q000175:diagnosis* / Q000473:pathology; D014786:Vision Disorders / Q000175:diagnosis* / Q000473:pathology; D016875:tau Proteins / Q000138:chemical synthesis
chemical_list: D048948:14-3-3 Proteins; D016875:tau Proteins
keywords: Creutzfeldt–Jakob disease; Heidenhain variant; Prion; Visuospatial dysfunction