Accumulation of Tau Protein, Metabolism and Perfusion—Application and Efficacy of Positron Emission Tomography (PET) and Single Photon Emission Computed Tomography (SPECT) Imaging in the Examination of Progressive Supranuclear Palsy (PSP) and Corticobasal Syndrome (CBS)

Neuroimaging in the context of examining atypical parkinsonian tauopathies is an evolving matter. Positron Emission Tomography (PET) and Single Photon Emission Computed Tomography (SPECT) bring tools, which may be reasonable in supplementary examination, however cannot be interpreted as a gold standard for correct diagnosis. The review presents advantages and limitations of tau radiotracers in PET, metabolic PET and perfusion SPECT. The aim of this paper is to highlight the possibilities and boundaries in the supplementary examination of tauopathic parkinsonian syndromes

The Anatomy of the Circle of Willis Is Not a Strong Enough Predictive Factor for the Prognosis of Cross-Clamping Intolerance during Carotid Endarterectomy

Carotid endarterectomy (CEA) is safe and effective in reducing the risk of stroke in symptomatic severe carotid artery stenosis. Having information about cross-clamping (CC) intolerance before surgery may reduce the complication rate. The purpose of this study was to assess the usefulness of magnetic resonance angiography (MRA) and magnetic resonance angiography perfusion (P-MR) in determining the risk of CC intolerance during CEA. Material and methods: 40 patients after CEA with CC intolerance were included in Group I, and 15 with CC tolerance in Group II. All patients underwent MRA of the circle of Willis (CoW), P-MR with or without Acetazolamide; P(A)-MR in the postoperative period. Results: CoW was normal in the MRA in three cases (7.5%) in Group I, and in eight (53%) in Group II. We found P-MR abnormalities in all patients from Group I and in 40% from Group II. Using a calculated cut-off point of 0.322, the patients were classified as CC tolerant with 100% sensitivity or as CC intolerant with 95% specificity. After evaluating P-MR or MRA alone, the percentage of false negative results significantly increased. Conclusion: The highest value in predicting cross-clamping intolerance is achieved by using analysis of P(A)-MR and MRA of the CoW in combination

Cathepsin B p.Gly284Val variant in Parkinsons disease pathogenesis

Parkinson’s disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B (CTSB) in susceptibility to PD. A typical PD family was identified and whole-exome sequencing was performed in two affected siblings. Variants of interest were validated using Sanger sequencing. CTSB p.Gly284Val was genotyped in 2077 PD patients and 615 unrelated healthy controls from the Czech Republic, Ireland, Poland, Ukraine, and the USA. The gene burden analysis was conducted for the CTSB gene in an additional 769 PD probands from Mayo Clinic Florida familial PD cohort. CTSB expression and activity in patient-derived fibroblasts and controls were evaluated by qRT-PCR, western blot, immunocytochemistry, and enzymatic assay. The CTSB p.Gly284Val candidate variant was only identified in affected family members. Functional analysis of CTSB patient-derived fibroblasts under basal conditions did not reveal overt changes in endogenous expression, subcellular localization, or enzymatic activity in the heterozygous carrier of the CTSB variant. The identification of the CTSB p.Gly284Val may support the hypothesis that the CTSB locus harbors variants with differing penetrance that can determine the disease risk