Article
Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family.
Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2001
Kovács G G, Ertsey C, Majtényi C, Jelencsik I, László L, Flicker H, Strain L, Szirmai I, Budka H
Abstract excerpt
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...
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