Article Text

Download PDFPDF
Heidenhain variant sporadic Creutzfeldt-Jakob disease diagnosed as an autoimmune encephalitis due to a false-positive GAD autoantibody
  1. Nicolás Urriola1,
  2. Kavie Soosapilla2,
  3. Geoffrey Herkes1 and
  4. Joseph Nogajski1
  1. 1 Neurology, Royal North SHore Hospital, Sydney, New South Wales, Australia
  2. 2 Junior Medical Staff Unit, Royal North Shore Hospital, Sydney, New South Wales, Australia
  1. Correspondence to Dr Nicolás Urriola, nicolas.urriola{at}


A 64-year-old man presented with a subacute history progressive visual field defects, illusions and misperceptions. An initial MRI brain revealed a right occipital signal abnormality on diffusion-weighted imaging (DWI) with serum glutamic acid decarboxylase (GAD) autoantibodies markedly elevated. A diagnosis of autoimmune encephalitis was made, with the patient being treated with intravenous immunoglobulin. One month after discharge, the patient represented with worsening frank and well-formed visual hallucinations, ataxia and progressive cognitive impairment. Progress MRI displayed characteristic T2 ribboning on diffusion weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR) sequences, along with periodic sharp wave complexes on electroencephalogram (EEG) and a raised CSF protein 14-3-3. Repeat serum, as well as cerebrospinal fluid (CSF), GAD antibodies were again markedly elevated as measured by ELISA (RSR, Cardiff, UK), although archival CSF from the original presentation as well as CSF from the second presentation had undetectable GAD autoantibodies as measured via radioimmunoassay (DIAsource, Ottignies-Louvain-la-Neuve, Belgium). Creutzfeldt-Jakob disease was confirmed at autopsy.

  • neurology
  • immunology
View Full Text

Statistics from


  • Contributors NU: main author, conceptualisation and preparation of manuscript. KS: acquisition of relevant data and editing of manuscript. GH: revision of manuscript. JN: EEG interpretation and revision of manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Next of kin consent obtained.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.