Related Experiment Videos
Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study
C M Bütefisch1, P Gambetti, L Cervenakova
1National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Neurology
|August 23, 2000
Summary
A new prion disease variant linked to the H187R mutation in the prion protein gene (PRNP) was identified. This autosomal dominant condition causes dementia, ataxia, and seizures, expanding known human prion disorders.
Area of Science:
- Neuroscience
- Genetics
Background:
- Prion diseases are fatal neurodegenerative disorders.
- The prion protein gene (PRNP) is implicated in various prionopathies.
Observation:
- A multigenerational American family presented with a unique prion encephalopathy.
- Nine affected individuals exhibited autosomal dominant inheritance.
Findings:
- The disease is caused by the PRNP H187R mutation.
- Onset averages 42 years, with symptoms including dementia, ataxia, myoclonus, and seizures.
- Histopathology revealed "curly" prion deposits with laminar distribution and minimal astrogliosis.
Implications:
- This H187R mutation represents a novel variant of human prion disease.
- Distinctive clinical and pathological features broaden the spectrum of prion encephalopathies.
- Further research into PRNP mutations can enhance understanding of prion disease pathogenesis.