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The Heidenhain variant of Creutzfeldt-Jakob disease
S Kropp1, W J Schulz-Schaeffer, M Finkenstaedt
1Department of Neurology, Georg-August-University Göttingen, Germany. stefan.kropp@primus-online.de
Insights
The Heidenhain variant of Creutzfeldt-Jakob disease (CJD) presents with visual disturbances and correlates with occipital lobe neuropathology. Early consideration of this CJD variant is crucial for patients with unexplained visual loss and dementia.
Area of Science:
- Neurology
- Neuroscience
- Pathology
Background:
- Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disorder.
- The Heidenhain variant of CJD is characterized by prominent visual symptoms.
- Distinguishing CJD variants is crucial for diagnosis and management.
Purpose of the Study:
- To identify characteristic neuropathological and radiological findings in the Heidenhain variant of CJD.
- To compare these findings with other CJD subtypes.
- To assess the diagnostic utility of various biomarkers.
Main Methods:
- Analysis of clinical, neuropathological, electroencephalographic, and magnetic resonance imaging (MRI) data from 14 Heidenhain variant CJD cases.
- Comparison with 14 CJD patients with ataxia.
- Genetic analysis for PRNP codon 129 polymorphism and assessment of 14-3-3 protein and neuron-specific enolase levels.
Main Results:
- 20% of CJD patients exhibited Heidenhain variant symptoms (visual disturbances).
- Heidenhain variant cases had shorter disease duration and distinct neuropathological patterns (occipital lobe predominance).
- Elevated 14-3-3 protein and PRNP codon 129 methionine homozygosity were common; MRI showed characteristic signal changes.
Conclusions:
- Clinical presentation of Heidenhain variant CJD correlates with specific neuropathological changes (gliosis, nerve cell loss).
- Neuropathological and radiological findings support the diagnosis of Heidenhain variant CJD.
- Consider Heidenhain variant CJD in patients with unexplained visual disorders and dementia.
Objective:
To investigate whether typical neuropathological and radiological findings can be identified in patients with the clinical diagnosis of the Heidenhain variant of Creutzfeldt-Jakob disease (CJD).
Design:
Case study. The clinical symptoms, neuropathological findings, electroencephalograms, magnetic resonance images, and cerebrospinal fluid samples of 14 Heidenhain cases were evaluated. Neuropathological changes were compared with those in a group of 14 patients with ataxia as the leading clinical sign.
Setting:
A university hospital, base of the German National Creutzfeldt-Jakob Disease Surveillance Study.
Patients:
Medical records of 169 neurologically examined patients with prospectively classified and neuropathologically confirmed CJD were analyzed.
Main Outcome Measure:
Difference in neuropathological and radiological findings between patients with the Heidenhain variant and other patients with CJD.
Results:
Of 169 patients with confirmed CJD, 20% showed characteristic clinical findings such as blurred vision, visual field restriction, metamorphopsia, or cortical blindness. Disease course of the Heidenhain group, as compared with the group of all patients with definite CJD, was significantly shorter (5.7 months vs 7.5 months; P=.02, t test). Neuropathological examination of patients with the Heidenhain variant showed most pronounced changes in the occipital lobe but less damage in the cingulate gyrus and basal ganglia compared with 14 patients with CJD who had ataxia as the leading clinical sign. Eleven (92%) of 12 genetically analyzed Heidenhain cases were homozygous for methionine at codon 129 of the prion protein gene (PRNP). In 9 of 9 cases, the 14-3-3 protein was present. In 7 (78%) of 9 cases, the level of neuron-specific enolase was elevated, with a concentration above 35 ng/mL. Periodic sharp-wave complexes were observed in 11 (78%) of the 14 cases. In 7 (63%) of 11 patients, magnetic resonance images showed symmetric hyperintensities in the basal ganglia in the T2- and proton-weighted sequence. In 4 of 11 cases the T2- and proton density-weighted images showed a pronounced signal increase confined to the gray matter of the occipital and visual cortex. Isolated atrophy of the visual cortex was noticeable in 2 of 11 cases.
Conclusions:
The clinical presentation of the Heidenhain variant of CJD was shown to correlate with the neuropathological findings of gliosis and nerve cell loss. In patients with visual disorders of unclear origin and signs of dementia, the differential diagnosis of a Heidenhain variant of CJD must be taken into consideration.