A family with mental disorder as the first symptom finally confirmed with Gerstmann-Straussler-Scheinker disease with P102L mutation in PRNP gene - case report.

ABSTRACT: Gerstmann-Sträussler-Scheinker (GSS) disease is an autosomal dominant neurodegenerative disease, and it is characterized by progressive cerebellar ataxia. Up to now, GSS cases with the p.P102L mutation have mainly been reported in Caucasian, but rarely in Asian populations. A 54-year-old female patient presented with an unstable gait in the hospital. Last year, she was unable to walk steadily and occasionally choked, could not even walk independently gradually. After taking her medical history, we found that she was misdiagnosed with schizophrenia before the gait problems. The patient's father showed similar symptoms and was diagnosed with brain atrophy at the age of 56, but her daughter showed no similar symptoms at present. On arrival at the Neurology Department, the patient's vital sign

SUBMITTER: Chen Z 

PROVIDER: S-EPMC9980613 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature