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Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family
  1. G G Kovácsa,b,
  2. C Ertseya,
  3. C Majtényic,
  4. I Jelencsika,
  5. L Lászlód,
  6. H Flickerb,
  7. L Straine,
  8. I Szirmaia,
  9. H Budkab
  1. aDepartment of Neurology, Semmelweis University, Budapest, Hungary, bInstitute of Neurology, AKH 4J, Währinger Gürtel 18–20, POB 48, A-1097 Vienna, Austria, and Austrian Reference Center of Human Prion Diseases, Vienna, Austria, cInstitute of Psychiatry and Neurology, Neuropathology Laboratory, Budapest, Hungary, dDepartment of General Zoology, Eötvös University, Budapest, Hungary, eCJD Surveillance Unit, Western General Hospital, Edinburgh, UK
  1. Professor H BudkaH.Budka{at}akh-wien.ac.at

Abstract

Three members of a family with inherited prion disease are reported. One additional family member had a progressive neurological disease without details. Two developed symptoms of ataxia, dementia, myoclonus, rigidity, and hemiparesis, and one had a different phenotype with the combination of lower motor neuron deficit, parkinsonism, intellectual decline, and ataxia. In this last patient cell loss of the anterior horn motor neurons and chronic neurogenic muscle atrophy was evident. Immunostaining for the prion protein disclosed unicentric and multicentric plaques, and coarse and fine granular positivity. Genetic analysis of the prion protein gene of the propositus showed a 117 codon alanine to valine mutation and homozygous 129 valine/valine genotype.

  • prion diseases
  • amyloid plaque
  • A117V mutation

https://doi.org/10.1136/jnnp.70.6.802

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