Inherited prion disease with A117V mutation of the prion protein gene: A novel Hungarian family

G. G. Kovács, C. Ertsey, K. Majtényi, I. Jelencsik, L. László, H. Flicker, L. Strain, I. Szirmai, H. Budka

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)802-805
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume70
Issue number6
DOIs
Publication statusPublished - Jun 2001

Fingerprint

Prion Diseases
Valine
Motor Neurons
Mutation
Anterior Horn Cells
Genes
Muscular Atrophy
Parkinsonian Disorders
Paresis
Ataxia
Codon
Alanine
Dementia
Genotype
Phenotype
Prion Proteins

Keywords

  • A117V mutation
  • Amyloid plaque
  • Prion diseases

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

Cite this

Inherited prion disease with A117V mutation of the prion protein gene : A novel Hungarian family. / Kovács, G. G.; Ertsey, C.; Majtényi, K.; Jelencsik, I.; László, L.; Flicker, H.; Strain, L.; Szirmai, I.; Budka, H.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 70, No. 6, 06.2001, p. 802-805.

Research output: Contribution to journalArticle

Kovács, G. G. ; Ertsey, C. ; Majtényi, K. ; Jelencsik, I. ; László, L. ; Flicker, H. ; Strain, L. ; Szirmai, I. ; Budka, H. / Inherited prion disease with A117V mutation of the prion protein gene : A novel Hungarian family. In: Journal of Neurology, Neurosurgery and Psychiatry. 2001 ; Vol. 70, No. 6. pp. 802-805.
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