1,354,519 research outputs found
Variable phenotype in a P102L Gerstmann-Straussler-Scheinker Italian family
No full textBackground: Gerstmann-Straussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs. Methods: We report a new large Italian family affected by Gerstmann-Straussler-Scheinker disease. Results: The four generation pedigree includes 11 patients. The mean age at onset +/-SD was 41.4 +/- 16.2 years. Mean disease duration to death in four patients was 5.5 +/- 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP gene. Conclusion: Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism
Variable phenotype in a P102L Gerstmann-Straussler-Scheinker Italian family
No full textBackground: Gerstmann-Straussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs. Methods: We report a new large Italian family affected by Gerstmann-Straussler-Scheinker disease. Results: The four generation pedigree includes 11 patients. The mean age at onset +/-SD was 41.4 +/- 16.2 years. Mean disease duration to death in four patients was 5.5 +/- 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP gene. Conclusion: Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism
Gerstmann-Straüssler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism
No full textThe p.D202N mutation in PRNP is a rare variant associated with Gerstmann-Straussler-Scheinker disease (GSS), a genetic form of prion cerebral amyloidosis. To date, there have been only 4 reports of this mutation worldwide and only one detailed clinical study (table e-1, links.lww.com/NXG/A223).(1-4) Here, we describe the clinical phenotype and the results of neuroradiologic and laboratory investigations in an Italian patient carrying this genetic variant
Gerstmann–Sträussler–Scheinker Disease
No full textGerstmann–Sträussler–Scheinker (GSS) disease is a rare human neurodegenerative disease characterized clinically by early cerebellar ataxia and later progressive dementia, and neuropathologically by abundant multicentric amyloid plaques composed of the prion protein (PrP). It belongs to the genetic prion diseases such as genetic or familial Creutzfeldt–Jakob disease (gCJD/fCJD) and fatal familial insomnia (FFI), and is associated with specific missense mutations in the PrP gene (PRNP)
Gerstmann-Sträussler- Scheinker Disease: A Case Report
No full textGerstmann-Sträussler-Scheinker (GSS) disease is a rare hereditary prion disease which is clinically
characterized by a progressive cerebellar ataxia followed by cognitive impairment. We report a rare
case of GSS disease in a 39-year-old male patient who complained of a progressive gait disturbance
followed by dysarthria with cognitive impairment, after five months from the onset of initial symptom.
His brain MRI scan revealed multifocal symmetric diffusion restricted lesions with T2/FLAIR hyperintensities
in bilateral cerebral cortices, basal ganglia, and thalami. His family members also manifested
similar symptoms in their 40–50s, suggesting the possibility of a genetic disease. Finally, he
was genetically diagnosed with GSS disease by real-time quaking-induced conversion and prion protein
(PRNP) gene sequencing test
Nitric oxide synthase in the nervous system and ink gland of the cuttlefish Sepia officinalis: molecular cloning and expression
No full textNitric oxide (NO) signaling is involved in numerous physiological processes in mollusks, e.g., learning and memory, feeding behavior, neural development, and defence response. We report the first molecular cloning of NOS mRNA from a cephalopod, the cuttlefish Sepia officinalis (SoNOS). SoNOS was cloned using a strategy that involves hybridization of degenerate PCR primers to highly conserved NOS regions, combined with RACE procedure. Two splicing variants of SoNOS, differing by 18 nucleotides, were found in the nervous system and the ink gland of Sepia. In situ hybridization shows that SoNOS is expressed in the immature and mature cells of the ink gland and in the regions of the nervous system that are related to the ink defence system
Robust autophagy in optic nerves of experimental Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker disease
No full textWe report here autophagy in the optic nerve in experimental Gerstmann-Sträussler-Scheinker disease (GSS) (Fujisaki-1) in mice and experimental Creutzfeldt-Jakob disease (CJD) (Echigo-1) in hamsters. Lesions of both experimental GSS in mice and experimental CJD in hamsters were practically indistinguishable. Briefly, they consisted of widespread Wallerian degeneration, spongiform change and a glial reaction. Numerous axonal swellings were seen. The latter were filled with numerous mitochondria and lysosomal electron-dense bodies. Autophagic vacuoles defined as structures bound in double membranes were readily found in many neuronal processes. The following description is organized as a sequence; however, the changes were all observed in the same specimens. First several empty double membrane-bound autophagic vacuoles were seen. In several of those vacuoles, the inner membrane was separated from the outer membrane and enclosed cargo. At the final stage, a mixture of empty autophagic vacuoles and electron-dense lysosomal vesicles was seen. Dystrophic neurites filled with a mixture of mitochondria, empty autophagic vacuoles and electron-dense lysosomal vesicles were interpreted as the final stage of autophagy. Of note, several areas were replaced with dense astrocytic gliosis
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases.
No full textGerstmann-Sträussler-Scheinker disease (GSS) is an inherited neurodegenerative disorder associated with mutations in the prion protein gene and accumulation of misfolded PrP with protease-resistant fragments (PrPres) of 6–8 kDa
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