Neuropsychological Symptoms in Sporadic Creutzfeldt-Jakob Disease Patients in Germany.

Background: The polymorphism at codon 129 of the prion protein gene (PRNP) and the PrPSc types 1 and 2 belong to a molecular classification of sporadic Creutzfeldt-Jakob disease (sCJD) that correlates well with the clinical and neuropathological phenotype of sCJD.

Objective: The aim of the study was to perform the first detailed evaluation of neuropsychological deficits in a large group of definite sCJD patients with known molecular subtype.

Methods: We analyzed neuropsychological symptoms in a cohort of 248 sCJD patients with known M129 V polymorphism of PRNP and prion protein type.

Clinical features of rapidly progressive Alzheimer's disease.

Objective: To characterize clinical features, CSF biomarkers and genetic polymorphisms of patients suffering from a rapidly progressing subtype of Alzheimer's dementia (rpAD).

Methods: Retrospective analyses of 32 neuropathologically confirmed cases differentially diagnosed as AD out of a group with rapidly progressive dementia. CSF biomarkers (14-3-3, tau, beta-amyloid 1-42) and genetic markers (PRNP codon 129, apolipoprotein E, ApoE, polymorphism) were determined.

Total prion protein levels in the cerebrospinal fluid are reduced in patients with various neurological disorders.

We performed a study on levels of the total prion protein (PrP) in humans affected by different neurological diseases and assessed the influence of several factors such as age, gender, and disease severity on the cerebrospinal fluid PrP levels. PrP-ELISA technique was used to analyze cerebrospinal fluid (CSF) samples. 293 CSF samples of patients with Creutzfeldt-Jakob-disease (CJD), Alzheimer's disease, dementia with Lewy-bodies, Parkinson's disease, multiple sclerosis, cerebral ischemia, generalized epileptic seizures, and meningitis and encephalitis in comparison to controls were analyzed.

Brain biopsy in patients with suspected Creutzfeldt-Jakob disease.

Object: Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder with diagnostic criteria defined as a combination of clinical symptoms, electroencephalography findings, cerebrospinal fluid (CSF) analysis, and MR imaging results. Special subtypes are known to present with an atypical course and test findings that can complicate the clinical diagnosis. In such patients a brain biopsy can support the clinical approach.

Quantitative analysis of transthyretin, tau and amyloid-beta in patients with dementia.

We carried out a quantitative analysis of transthyretin (TTR), total tau protein and amyloid-beta (Abeta) peptide (1-40 and 1-42) in the lumbar cerebrospinal fluid of 106 patients with different forms of dementia including Alzheimer's disease (AD), Creutzfeldt-Jakob-disease (CJD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD) and normal pressure hydrocephalus (NPH) in comparison to healthy controls. Our study revealed that Abeta_{1-42} levels were decreased in all patients irrespective of dementia type. Tau protein levels were abnormal in all degenerative dementia except of NPH.

Novel PRNP mutation in a patient with a slow progressive dementia syndrome.

Background: Creutzfeldt-Jakob disease is a rare neurodegenerative disorder with a worldwide incidence of 1.5 per million inhabitants. About 10-15% of all cases of Creutzfeldt-Jakob disease are of genetic origin and display a large variety in clinical presentation (regarding disease duration, age at onset, and others).

Fatal familial insomnia: Clinical features and early identification.

Our aim was to develop a detailed clinical description of fatal familial insomnia in a large patient group with respect to the M129V genotype. Data on 41 German fatal familial insomnia patients were analyzed. Clinical features, 14-3-3 proteins in the cerebrospinal fluid, magnetic resonance imaging, positron emission tomography, single-photon emission computed tomography, polysomnography, and electroencephalography were studied.

ApoE distribution and family history in genetic prion diseases in Germany.

We analyzed the ApoE genotype in patients with genetic prion diseases (gPD) with respect to family history (FH) of dementia/prion disease (PD) compared to non-demented controls. Fifty-nine gPD patients and 51 sex-/age-matched controls were included. A positive FH of dementia and PD (PFH) were evaluated.

Increased frequency of positive family history of dementia in sporadic CJD.

Objective: To analyze whether a positive family history of dementia (PFHD) is more common in sporadic CJD (sCJD) than in healthy/population controls and to study associated risk factors.

Patients/methods: Six hundred and eighty-five sCJD patients and 659 sex-/age-matched controls were included. A PFHD in parents/grandparents/siblings was evaluated.

Molecular subtype-specific clinical diagnosis of prion diseases.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare transmissible disease caused by accumulation of pathological prion protein (PrP(sc)) in the CNS. According to the codon 129 polymorphism (methionine or valine) and the prion protein type 1 or 2, a classification into distinct subtypes was established. Further analysis of these subtypes detected atypical clinical forms with longer disease duration or younger age at onset.

Brain-derived proteins in the CSF: do they correlate with brain pathology in CJD?

Background: Brain derived proteins such as 14-3-3, neuron-specific enolase (NSE), S 100b, tau, phosphorylated tau and Abeta1-42 were found to be altered in the cerebrospinal fluid (CSF) in Creutzfeldt-Jakob disease (CJD) patients. The pathogenic mechanisms leading to these abnormalities are not known, but a relation to rapid neuronal damage is assumed. No systematic analysis on brain-derived proteins in the CSF and neuropathological lesion profiles has been performed.

Clinical findings and diagnostic tests in Creutzfeldt-Jakob disease and variant Creutzfeldt-Jakob disease.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare transmissible disease caused by accumulation of pathological prion protein in the CNS. sCJD typically affects patients in their sixties. The median disease duration in sCJD (6 months) is shorter than in variant Creutzfeldt-Jakob disease (vCJD) (14 months).

Clinical features and diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease.

Objective: To describe clinical features and diagnostic tests of the MM2 cortical subtype in sporadic Creutzfeldt-Jakob disease.

Methods: Clinical symptoms, magnetic resonance imaging studies, electroencephalograms, and cerebrospinal fluid markers were studied in 12 patients with genetically and neuropathologically verified sporadic Creutzfeldt-Jakob disease. Histological findings were semiquantitatively evaluated.

Clinical findings and diagnostic tests in the MV2 subtype of sporadic CJD.

Atypical clinical course and low sensitivity of established diagnostic tests are the main diagnostic problems in the MV2 subtype of sporadic Creutzfeldt-Jakob disease (sCJD). Clinical symptoms and signs, MRI, EEG and biochemical CSF markers were studied in 26 patients. Histological findings were semiquantitatively evaluated.

Interleukin 4 and interleukin 10 levels are elevated in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease.

Background: In neurodegenerative diseases, increasing attention has been focused on inflammatory mediators such as pro-inflammatory and anti-inflammatory cytokines and their potential influence in the process of neurodegeneration. In prion diseases, much data has been gained on the cell culture and animal disease models level, but only limited information is available on humans affected by Creutzfeldt-Jakob disease (CJD).

Objective: To obtain data on anti-inflammatory cytokines interleukin 4 and interleukin 10 in the cerebrospinal fluid of patients with CJD, patients with other dementia, and nondemented neurological patients and controls.

Clinical course in young patients with sporadic Creutzfeldt-Jakob disease.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disease with the greatest incidence occurring in patients between 60 and 70 years old. Younger patients may also be affected. In this study, we used all case material available from 52 patients with sCJD aged 50 years or younger at disease onset, who were identified between 1993 and 2003 in Germany.

MRI in the diagnosis of sporadic Creutzfeldt-Jakob disease: a study on inter-observer agreement.

According to the current WHO criteria, technical investigations included in the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) are electroencephalogram (EEG) and CSF-analysis for 14-3-3 proteins. MRI is not a criterion for the diagnosis of sCJD, although typical changes have been described. We investigated the reliability of MRI in the sCJD diagnosis, evaluated MRI sequences and compared MRI with EEG and 14-3-3.

Identification of toxic products of anthracene photomodification in simulated sunlight.

Currently, the evidence of a rapid photomodification of anthracene under sunlight resulting in enhanced toxicity exists; however, the chemical causes of toxicity are still unknown. The present study aimed at filling this gap by irradiation of an anthracene suspension with simulated sunlight and subsequent effect-directed fractionation and analysis of toxic products with respect to the inhibition of bacterial energy metabolism of Vibrio fischeri, reproduction of the green algae Scenedesmus vacuolatus, and genotoxicity in the umuC test. Algal toxicity of anthracene was hardly modified by irradiation prior to testing and distributed over all fractions with emphasis on the fractions containing anthracene-9,10-dione and a photometabolite suggested to be 10-hydroxyanthrone.