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Cerebral cortex swelling in V180I genetic Creutzfeldt-Jakob disease: comparative imaging study between sporadic and V180I genetic Creutzfeldt-Jakob disease in the early stage.
Prion
December 2023
Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
The most common genetic Creutzfeldt-Jakob disease (gCJD) in Japan is caused by a point mutation in which isoleucine replaces valine at codon 180 of the prion protein () gene (V180I gCJD). Evidence suggests that cerebral cortex swelling, which appears as abnormal hyperintensities on diffusion-weighted imaging (DWI), is a characteristic magnetic resonance imaging (MRI) finding of V180I gCJD. However, no study has directly compared the MRI findings between V180I gCJD and sporadic CJD (sCJD).
View Article and Find Full Text PDFHallucinatory palinopsia and paroxysmal oscillopsia as initial manifestations of sporadic Creutzfeldt-Jakob disease: A case study.
Cortex
March 2020
Sechenov University, Moscow, Russia; Albizu University, Miami, FL, USA. Electronic address:
Background: Heidenhain variant of Cruetzfeldt Jacob Disease is a rare phenotype of the disease. Early and isolated visual symptoms characterize this particular variant of CJD. Other typical symptoms pertaining to muti-axial neurological involvement usually appear in following weeks to months.
View Article and Find Full Text PDFScrapie, CWD, and Transmissible Mink Encephalopathy.
Prog Mol Biol Transl Sci
May 2018
Colorado State University, Fort Collins, CO, United States. Electronic address:
Transmissible spongiform encephalopathies (TSEs), or prions, are neurodegenerative diseases that affect a variety of animal species, including humans. Cruetzfeldt-Jakob disease (CJD) in humans, sheep and goat scrapie, chronic wasting disease (CWD) of cervids, and transmissible mink encephalopathy (TME) of mink are classified as TSEs. According to the "protein-only" hypothesis (Prusiner, 1982), prions are devoid of nucleic acids and consist of assemblies of misfolded host-encoded normal protein, the prion protein (PrP).
View Article and Find Full Text PDFAlien hand and leg as the presenting feature of probable sporadic Creutzfeldt-Jakob disease: A rare presentation of a rare disease.
Ann Indian Acad Neurol
March 2015
Department of Neurology, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.
Sporadic Creutzfeldt-Jakob disease (sCJD) can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness). Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration.
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