Objective:

To identify patients with prion disease, evaluate their clinical and diagnostic characteristics, explore prevalence and outcome trends, and identify risk factors for poor outcomes.

Background:

Prion diseases are caused by aggregation of misfolded proteins within the brain causing a rapidly progressive neurologic decline that is ultimately fatal. While generally accepted to be rare, its age-adjusted incidence has been increasing over the past decades worldwide. It is unclear whether this represents increased detection from advanced diagnostic techniques, if aging population is contributing, or if other unknown causative factors exist. Presently, literature characterizing prion disease in detail is limited in scope and sample size.

Design/Methods:

Retrospective study of patients aged ≥18 years with diagnosis of prion disease while admitted to an academic health system in Atlanta, Georgia from August 2022 to September 2024. Descriptive statistics will be used to summarize demographic, clinical, and diagnostic data. Logistic regression analysis will be used when appropriate.

Results:

Data collection is underway to include hospitalized patients beginning early 2010 but preliminary data is with 16 patients (11 male and 5 female) and predominantly (50%) of White ethnicity. Median age at presentation is 67 years (range 30–80), median symptom onset to admission is 3.5 months (range 1–9), and median hospital stay is 16.5 days (range 2–38). Fourteen patients had CSF testing with RT-QuIC positive in 6, negative and indeterminate in 4 each. Three patients underwent biopsy and 1 patient underwent autopsy. Eight patients were discharged to home or rehabilitation, while 8 were discharged to hospice. Six patients are known to be deceased, with a median of 47.5 days between discharge and death (range 2–228).

Conclusions:

Our study will enhance the understanding of prion disease to better diagnose and manage this fatal condition.