An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD

Obergassel, Julius; Meuth, Sven G.; Wiendl, Heinz; Grauer, Oliver; Nelke, Christopher

doi:10.1080/19336896.2019.1706703

Cited by 5 publications

(4 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Section: Discussionmentioning

confidence: 99%

“…4 Given the visual-onset presentation and the rapid decline it is likely our patient would have been homozygous for the MM1 subtype at codon 129. 19 We have since instituted PRNP genetic testing through an outsourced laboratory. The majority of sCJD patients die within one year of onset of symptoms, and the Heidenhain variant confers a more devastating course, with death usually within a few months of symptom onset, 20 as demonstrated in our patient.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease: First Reported Case from East Africa

Sokhi¹,

Yakub²,

Sharma³

et al. 2021

IMCRJ

View full text Add to dashboard Cite

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare prion disease that causes rapidly progressive fatal neurodegeneration. The rarer Heidenhain variant of sCJD presents with visual symptoms and is rarely reported in the literature from sub-Saharan Africa. We report the case of a 57-year-old male with a three-week history of losing direction when driving home and visual hallucinations described as seeing rainbows. Magnetic resonance imaging (MRI) of the brain revealed unilateral parieto-occipital sulcal hyperintensities with restriction on diffusion-weighted imaging (DWI), and electroencephalography (EEG) showed right para-central slowing leading to an initial diagnosis of non-convulsive status epilepticus. He was treated with anti-epileptic medication but was re-admitted less than a month later with worsening spatial memory, aggression, ataxia, dysarthria, myoclonic jerks and a positive startle response, later developing generalised tonic-clonic seizures. Repeat MRI brain scan showed widespread posterior-predominant sulcal DWI restriction in a cortical ribboning pattern pathognomonic for sCJD. EEG showed diffuse slowing, and cerebrospinal fluid was analyzed for abnormal prion protein using real-time quaking-induced conversion but was inconclusive due to suboptimal sample collection. The patient fulfilled the diagnostic criteria for probable sCJD, Heidenhain variant; the family declined brain biopsy for definitive diagnosis. He was subsequently palliated at a local hospice where he died approximately three months after the onset of symptoms. Our case highlights the presence of a rare form of sCJD, and the diagnostic challenges faced in our resource-limited setting.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease: First Reported Case from East Africa

Sokhi¹,

Yakub²,

Sharma³

et al. 2021

IMCRJ

View full text Add to dashboard Cite

show abstract

“…In contrast to extensive structural neuroimaging data, limited information is available about the characteristics and diagnostic utility of metabolic brain imaging. Case reports [10–13] and small case series [14–16] showed pronounced hypometabolism in various cortical and subcortical areas in CJD patients. The hypometabolic brain areas were concordant with MRI changes but more pronounced [16, 17].…”

Section: Introductionmentioning

confidence: 99%

Sporadic Creutzfeldt–Jakob disease is associated with reorganization of metabolic connectivity in a pathological brain network

Rus

Mlakar

Ležaič

et al. 2023

Euro J of Neurology

View full text Add to dashboard Cite

Background and purpose: Although sporadic Creutzfeldt-Jakob disease (sCJD) is a rare cause of dementia, it is critical to understand its functional networks as the prion protein spread throughout the brain may share similar mechanisms with other more common neurodegenerative disorders. In this study, the metabolic brain network associated with sCJD was investigated and its internal network organization was explored. Methods:We explored 2-[ 18 F]fluoro-2-deoxyd-glucose positron emission tomography (FDG-PET) brain scans of 29 sCJD patients, 56 normal controls (NCs) and 46 other dementia patients from two independent centers. sCJD-related pattern (CJDRP) was identified in a cohort of 16 pathologically proven sCJD patients and 16 age-matched NCs using scaled subprofile modeling/principal component analysis and was prospectively validated in an independent cohort of 13 sCJD patients and 20 NCs. The pattern's specificity was tested on other dementia patients and its clinical relevance by clinical correlations. The pattern's internal organization was further studied using graph theory methods. Results:The CJDRP was characterized by relative hypometabolism in the bilateral caudate, thalami, middle and superior frontal gyri, parietal lobe and posterior cingulum in association with relative hypermetabolism in the hippocampi, parahippocampal gyri and cerebellum. The pattern's expression significantly discriminated sCJD from NCs and other dementia patients (p < 0.005; receiver operating characteristic analysis CJD vs. NCs area under the curve [AUC] 0.90-0.96, sCJD vs. Alzheimer's disease AUC 0.78, sCJD vs. behavioral variant of frontotemporal dementia AUC 0.84). The pattern's expression significantly correlated with cognitive, functional decline and disease duration. The metabolic connectivity analysis revealed inefficient information transfer with specific network reorganization. Conclusions:The CJDRP is a robust metabolic biomarker of sCJD. Due to its excellent clinical correlations it has the potential to monitor disease in emerging disease-modifying trials.

show abstract

“…Although NDs determine different clinical conditions with a different clinical onset, they share some features, such as neuro-inflammation, the breakdown of molecular cleaning pathways, and selected or generalized loss of neurons [1]. Certain neurodegenerative diseases are also linked to intracellular or extracellular macro-aggregates in selected brain structures, which are represented by amyloid-beta (Aβ) for AD, tau (τ ) protein in AD and other types of dementia, α-synuclein in PD and LBD, and Creutzfeldt-Jacob disease, which is a prion-linked neurodegenerative disorder [2]. Aβ is essential in signal regulation, neuronal metabolism, and intracellular delivery of metabolites [3], and the τ protein is involved in cellular stability, in particular of axonal microtubules [4].…”

Section: Introductionmentioning

confidence: 99%

Positron Emission Tomography Molecular Imaging of the Major Neurodegenerative Disorders: Overview and Pictorial Essay, from a Nuclear Medicine Center's Perspective

Calabria,

Leporace,

Cimini

et al. 2023

J. Integr. Neurosci.

View full text Add to dashboard Cite

Computed tomography (CT) and magnetic resonance imaging (MRI) provide key structural information on brain pathophysiology. Positron emission tomography (PET) measures metabolism in the living brain; it plays an important role in molecular neuroimaging and is rapidly expanding its field of application to the study of neurodegenerative diseases. Different PET radiopharmaceuticals allow in vivo characterization and quantization of biological processes at the molecular and cellular levels, from which many neurodegenerative diseases develop. In addition, hybrid imaging tools such as PET/CT and PET/MRI support the utility of PET, enabling the anatomical mapping of functional data. In this overview, we describe the most commonly used PET tracers in the diagnostic work-up of patients with Alzheimer's disease, Parkinson's disease, and other neurodegenerative diseases. We also briefly discuss the pathophysiological processes of tracer uptake in the brain, detailing their specific cellular pathways in clinical cases. This overview is limited to imaging agents already applied in human subjects, with particular emphasis on those tracers used in our department.

show abstract

An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD

Cited by 5 publications

References 26 publications

Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease: First Reported Case from East Africa

Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease: First Reported Case from East Africa

Sporadic Creutzfeldt–Jakob disease is associated with reorganization of metabolic connectivity in a pathological brain network

Positron Emission Tomography Molecular Imaging of the Major Neurodegenerative Disorders: Overview and Pictorial Essay, from a Nuclear Medicine Center's Perspective

Contact Info

Product

Resources

About