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Gerstmann‐Struassler‐Scheinker disease is one of the familial prion diseases secondary to mutations in the prion protein gene (PRNP). The clinical phenotype has a diverse spectrum and might show variation among… Click to show full abstract
Gerstmann‐Struassler‐Scheinker disease is one of the familial prion diseases secondary to mutations in the prion protein gene (PRNP). The clinical phenotype has a diverse spectrum and might show variation among cases with the same genotype. We report a patient with G131V mutation in the PRNP gene, who was initially considered to harbor familial Alzheimer’s disease, based on the family history, clinical presentation and imaging findings.
Keywords:
prnp;
dementia associated;
unusual familial;
familial dementia;
associated g131v;
mutation
Journal Title: European Journal of Neurology
Year Published: 2020
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Journal Title: European Journal of Neurology
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!