Phenotypic Variability of PRNP and Related Movement Disorders
Objective: Delineation of clinical and genetic features of PRNP-related movement disorders in two families. Background: Genetic prion disease can have a variable and overlapping phenotypic presentation…Early-onset spastic ataxia in a patient with prion (PRNP) p.Val180Ile mutation
Objective: To broaden the clinical manifestation of PRNP gene mutation-related ataxia. Background: Genetic forms of prion diseases caused by PRNP mutation account for about 10-15%,…Challenging diagnosis of familial Gerstmann-Straussler-Scheinker disease with normal brain image: a case report and systematic review
Objective: We report a case of familial Gerstmann-Straussler-Scheinker (GSS) disease, who presented with cerebellar ataxia, but did not show abnormalities in diffusion weighted image (DWI)…Gerstmann-Straussler-Scheinker Syndrome Manifesting Levodopa-Responsive Parkinsonism, Levodopa-Induced Dyskinesia, and Abnormal DaT-SPECT
Objective: The objective of this report is to describe previously unreported features in a patient with Gerstmann-Straussler-Scheinker syndrome (GSS) due to the F198S mutation. Background:…Prion disease with 8 octapeptide repeat insertional mutation presenting with HDL1 phenotype
Objective: To report the clinical and genetic features in a patient with an insertion of 8 extra octapeptide repeats in the prion protein gene (PRNP).…No frank biochemical evidence of proteinopathy in the cerebellar cortex of patients with essential tremor
Objective: This study was designed to determine the presence of common types of proteinopathies in the cerebellar cortex of patients who died with essential tremor…Familial Creutzfeldt-Jakob disease with D178N and Met129Val
Objective: Fatal familial insomnia (FFI) and Creutzfeldt-Jakob disease (CJD) are two phenotypes that share a common point mutation at codon 178 of the prion protein…Creutzfeldt-Jakob disease with a M232R substitution (CJD232) masquerading as parkinson look-alike syndrome
Objective: To describe a case of Creutzfeldt-Jakob disease with a M232R substitution (CJD 232) presented with parkinson look-alike syndrome and showed remarkably long survival time.…PrP as a receptor of alpha-synuclein in the pancreas of patients with synucleinopathies
Objective: We have investigated whether the cellular prion protein interacts with alpha-synuclein in pancreatic cells of patients with synucleinopathies. Background: Neurodegenerative diseases such as Alzheimer’s…Familial Creutzfeldt-Jakob Disease with an E200K Mutation in Peru: A Case Report
Objective: To describe the clinical and molecular features of a familial Creutzfeldt-Jakob Disease (fCJD) case in Peru. Background: Creutzfeldt - Jakob disease (CJD) is characterized…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.