Relationships between Clinicopathological Features and Cerebrospinal Fluid Biomarkers in Japanese Patients with Genetic Prion Diseases

Authors: Maya Higuma, Nobuo Sanjo, Katsuya Satoh, Yusei Shiga, Kenji Sakai, Ichiro Nozaki, Tsuyoshi Hamaguchi, Yosikazu Nakamura, Tetsuyuki Kitamoto, Susumu Shirabe, Shigeo Murayama, Masahito Yamada, Jun Tateishi, Hidehiro Mizusawa

DOI: 10.1371/journal.pone.0060003

Abstract Summary

Japanese researchers analyzed 309 genetic prion disease patients, finding distinct patterns linking specific gene mutations to clinical symptoms and brain markers. E200K mutations caused rapid Creutzfeldt-Jakob disease, while V180I led to slower progression. Abnormal prion protein detection in spinal fluid varied dramatically by mutation type (80%+ for some vs 39% for others), offering new diagnostic insights.

Why Brain? 🧠

Japanese study of 309 genetic prion disease patients reveals distinct CSF biomarker patterns correlate with specific mutations and clinical phenotypes, improving diagnostic accuracy.

The image is AI-generated for illustrative purposes only. Courtesy of Midjourney.