Prion disease is a rare, fatal, and often rapidly progressive neurodegenerative disease. Ten
to fifteen percent of cases are caused by autosomal dominant gain-of-function variants in the …

Human prion disorders (transmissible spongiform encephalopathies, TSEs) are unique,
progressive, and fatal neurodegenerative diseases caused by aggregation of misfolded …

Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, arise
from the structural conversion of the monomeric, cellular prion protein (PrPC) into its …

The increasing availability of molecular genetic testing has changed the landscape of both
genetic research and clinical practice. Not only is the pace of discovery of novel disease …

The possibilities for diagnosing prion diseases have shifted significantly over the last 10
years. The RT-QuIC assay option has been added for neuropsychiatric symptoms …

Prion diseases, including Creutzfeldt–Jakob disease, are mediated by transmissible
proteinaceous pathogens. Pathological changes indicative of neuro-degeneration have …

Prion diseases and the prion protein are only partially understood so far in many aspects.
This explains the continued research on this topic, calling for an overview on the current …

Objectives To elucidate and compare the genetic, clinical, ancillary diagnostic, and
pathological characteristics across different Gerstmann-Sträussler-Scheinker disease (GSS) …

Gerstmann–Sträussler–Scheinker (GSS) disease is an inherited prion disease characterized
by dementia, cerebellar ataxia, and painful sensory disturbances. GSS is pathologically …

Introduction Before the introduction of MRI diffusion-weighted images (DWI), the diagnosis of
Creutzfeldt–Jakob disease (CJD) relied upon nonspecific findings including clinical …