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Related Experiment Videos

A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease

L G Goldfarb1, P Brown, B W Little

  • 1Laboratory of CNS Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

Neurology
|November 1, 1993
PubMed
Summary

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Novel PRNP sequence variant associated with familial encephalopathy.

American journal of medical genetics·1999

A family with Creutzfeldt-Jakob disease (CJD) and dementia exhibited a PRNP gene mutation. This genetic finding, a 24-nucleotide insert, was present in affected individuals, suggesting a hereditary link to prion disease.

Area of Science:

  • Neuroscience
  • Genetics
  • Neuropathology

Background:

  • Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative prion disease.
  • Familial CJD accounts for a small percentage of cases, often linked to PRNP gene mutations.
  • Progressive dementia can be a symptom of various neurological disorders, including prion diseases.

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