[A case of variant Gerstmann-Sträussler-Scheinker disease with the mutation of codon P105L].

Abstract excerpt

Here we present a case of variant GSS disease with mutations in codons 1055 and 129 in a prion protein. The patient was a 54-year-old male, who developed weakness in the lower limbs and spastic, wide-based gait at the age of 46 years. Subsequently he developed dementia and spastic quadriplegia at the age of 49. He had marked pseudobulbar palsy at the age of 50 and became bed-ridden in decorticated posture at teh...

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