Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease

Baiardi, Simone; Capellari, Sabina; Stella, Anna Bartoletti; Parchi, Piero

doi:10.3233/jad-180123

Cited by 37 publications

(18 citation statements)

References 135 publications

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“…The most common clinical manifestation of sCJD in the early stage was rapid progressive dementia. In this study, in the early stage of the disease, most patients developed onset with rapid progressive dementia, cerebellar ataxia, visual disturbances, and psychiatric symptoms, which was similar to the onset of visual or auditory disturbances, isolated psychiatric manifestations, and isolated aphasia symptoms of sCJD reported in the literature [13].…”

Section: Auxiliary Examinationsupporting

confidence: 79%

Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases

Zhang

Zhao

et al. 2020

Eur Neurol

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Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is an extremely rare fatal and infectious neurodegenerative brain disorder characterized by rapidly progressive dementia, cerebellar ataxia, and visual disturbances. This article summarizes the retrospective analysis of 104 sCJD patients in the First Medical Center of Chinese PLA General Hospital from 2003 to 2019. Methods: A retrospective analysis of the medical records of the 104 patients diagnosed with sCJD was performed from the aspects of demographic data, clinical manifestations, laboratory examinations, cerebrospinal fluid analysis, electroencephalograms (EEGs), diffusionweighted imaging (DWI) scans, positron emission tomography (PET) scans, and prion protein gene mutations. Results: In the 104 sCJD patients, pathological evidence of a spongiform change was found in 11 patients, while the remaining 93 patients were probable sCJD. The 104 patients included 57 males and 47 females, with the age of onset ranging from 29 to 82 (mean: 58, median: 60) years. The time from disease onset to death ranged from 1 to 36 months. Most of the patients died 7-12 months after the onset of sCJD. In most patients, rapidly progressive dementia appeared as the initial symptom, followed by cerebellar ataxia, visual disturbances, and neurobehavioral disorders. Most patients' DWI images showed symmetric or asymmetric hyperintensity in the cortex. In terms of EEGs, 38.2% of the patients had periodic sharp wave complexes. The sensitivity of 14-3-3 protein detection was 34.1%. The brain PET scans of 50 patients with sCJD presented 96% sensitivity for the diagnosis of sCJD. Conclusions: This study indicated that sCJD occurred at an early age in patients in China. The sensitivity of 14-3-3 protein detection was significantly low, but brain PET was highly sensitive in the diagnosis of sCJD.

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Section: Auxiliary Examinationsupporting

confidence: 79%

Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases

Zhang

Zhao

et al. 2020

Eur Neurol

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“…Most significantly, CJD, by far the most prevalent prion disease in humans, comprises six subtypes, which are primarily determined by the genotype at the polymorphic codon 129 (encoding methionine, M or valine, V) in PRNP , and by the type (1 or 2) of abnormal prion protein (PrP Sc ) accumulating in the brain (i.e., MM1, VV1, MM2, VV2, MV2) [ 63 – 65 ] (Table 1 ). The broad clinical heterogeneity at disease onset, which largely overlaps with that of other rapidly progressive dementias (RPDs), and the variable disease progression affecting survival times, significantly challenge the early diagnosis and clinical management of patients with prion disease [ 6 ]. Brain-derived CSF protein assays serving as surrogate markers for neuronal damage and diffusion-weighted magnetic resonance imaging (DW-MRI) have provided the primary support for the clinical diagnosis of sporadic prion disease in the past 15–20 years.…”

Section: Main Textmentioning

confidence: 99%

Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids

Candelise

Baiardi

Franceschini

et al. 2020

acta neuropathol commun

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Tissue accumulation of abnormal aggregates of amyloidogenic proteins such as prion protein, α-synuclein, and tau represents the hallmark of most common neurodegenerative disorders and precedes the onset of symptoms by years. As a consequence, the sensitive and specific detection of abnormal forms of these proteins in patients' accessible tissues or fluids as biomarkers may have a significant impact on the clinical diagnosis of these disorders. By exploiting seeded polymerization propagation mechanisms to obtain cell-free reactions that allow highly amplified detection of these amyloid proteins, novel emerging in vitro techniques, such as the real-time quakinginduced conversion assay (RT-QuIC) have paved the way towards this important goal. Given its high accuracy in identifying misfolded forms of prion protein from Creutzfeldt-Jakob disease (CJD) CSF, RT-QuIC has already been included in the diagnostic criteria for the clinical diagnosis of sporadic CJD, the most common human prion disease. By showing that this assay may also accurately discriminate between Lewy body disorders and other forms of parkinsonisms or dementias, more recent studies strongly suggested that CSF RT-QuIC can also be successfully applied to synucleinopathies. Finally, preliminary encouraging data also suggested that CSF RT-QuIC might also work for tau protein, and accurately distinguish between 3R-and 4R tauopathies, including Pick's disease, progressive supranuclear palsy, and corticobasal degeneration. Here we will review the state of the art of cell-free aggregation assays, their current diagnostic value and putative limitations, and the future perspectives for their expanded use in clinical practice.

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“…The majority of the cases of prion disease are either sporadic or acquired in nature [24]. Around 15% of all prion disease are caused by muta tions in the prion protein gene, which are inherited in an autosomal dominant fashion.…”

Section: Prion Diseasesmentioning

confidence: 99%

Review of Hereditary and Acquired Rare Choreas

Martínez-Ramírez

Walker

Rodríguez-Violante

et al. 2020

Tremor and Other Hyperkinetic Movements

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The first step in diagnosis is recognizing the movement disorder as chorea [1]. Chorea is characterized by irregu lar, purposeless, arrhythmic, nonstereotyped involuntary movements that flow from one body part to another [2]. These movements can affect any part of the body, although usually brief, can also be of long duration, and can have small or large amplitude. Movements with large amplitude localized proximally in the arms are called "ballismus" [3]. Once the movement disorder has been recognized as chorea, we then recommend classifying the age of onset as either childhood (prior to the age of 16) or adultonset [1]. Multiple causes of chorea exist in both age groups, many of which fit in the definition of rare diseases [4]. Since the most common cause of acute chorea in childhood is Sydenham's chorea and of chronic progressive chorea in adults is Huntington's disease (HD), we recommend these disorders should be tested for, as appropriate, and excluded before proceeding to other diagnostic pathways. The next step is to determine, if possible, whether the chorea is hereditary (genetic) or acquired (nongen etic) in nature. The family history should be carefully and

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Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease

Cited by 37 publications

References 135 publications

Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases

Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases

Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids

Review of Hereditary and Acquired Rare Choreas

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