Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant
نویسندگان
چکیده
The c.341G>T (p.G114V) variant of the prion protein gene (PRNP) has been reported in a Uruguayan and a Chinese family to cause an inheritable prion disease, albeit with incomplete penetrance. The condition is characterized by early-onset, relatively prolonged course, early neuropsychiatric symptoms, followed by pyramidal and extrapyramidal symptoms. We present a 20-year-old African American woman, with no family history of neurodegenerative disease, who presented with rapidly progressive cognitive decline and subsequent movement disorders who was found to have the PRNP variant.
منابع مشابه
گزارش یک مورد بیماری کروتزفلد ژاکوب بدنبال حجامت (گزارش موردی)
Background: Creutzfeldt-Jakob disease (C-JD) is a rare disorder characterized with rapidly progressive mental decline, myoclonic jerk and finally death. The transmissible pathogen for this disease is a proteinaceous infectious particle termed prion. The prion protein is encoded by a gene (designated as PRNP) on the short arm chromosome 20.This disorder is diagnosed based on clinical findings, c...
متن کاملHuman prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series
INTRODUCTION Transmissible spongiform encephalopathies are a group of neurodegenerative diseases of humans and animals. Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein, include familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. CASE PRESENTATION...
متن کاملPRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population.
The missense P39L variant in the prion protein gene (PRNP) has recently been associated with frontotemporal dementia (FTD). Here, we analyzed the presence of the P39L variant in 761 patients with FTD and 719 controls and found a single carrier among patients. The patient was a 67-year-old male, with a positive family history for dementia, who developed apathy, short term memory deficit, and pos...
متن کاملPolymorphism of Prion Protein Gene (PRNP) in Iranian Holstein and Two Local Cattle Populations (Golpayegani and Sistani) of Iran
Bovine spongiform encephalopathy (BSE) is a fatal infectious neurodegenerative disease in cattle, characterized by the accumulation of an abnormal, proteaseresistant prion protein (PrPSc) in the brain. BSE is similar to scrapie in sheep and goats and Creuzfeldt-Jakob disease in humans. Susceptibility in cattle hasbeen shown to be under the influence of two polymorphic locations, which are...
متن کاملUnusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G).
IMPORTANCE Here we describe the unusual clinical and molecular-neuropathological profile of a case of Gerstmann-Sträussler-Scheinker disease associated with a novel prion protein (PRNP) gene mutation. OBSERVATIONS This case report from the Australian National Creutzfeldt-Jakob Disease Registry concerns a 61-year-old British-born woman with no history of neurodegenerative disorder in first-deg...
متن کامل