Article
Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome.
Neurology India - 1 Jan 2000
Bhatia Sameer, Bijarnia-Mahay Sunita, Dubey Sudisha, Gourie-Devi Mandaville
Abstract excerpt
Gerstmann-Sträussler-Scheinker (GSS) syndrome is a devastating hereditary prion disease, presenting in 4th-5th decade with progressive ataxia and dementia. Pathogenic variants in the PRNP gene lead to aggregation of misfolded prion protein which results in neurodegeneration and death within a few years of onset. A key feature of prion disorders is conversion of normal prion protein (PrPc) into its misfolded form...
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