Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome
Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome
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Mumbai: Wolters Kluwer India Pvt. Ltd
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English
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Publisher
Mumbai: Wolters Kluwer India Pvt. Ltd
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Contents
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...
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Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome
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TN_cdi_proquest_journals_2532919151
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2532919151
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ISSN
0028-3886
E-ISSN
1998-4022
DOI
10.4103/0028-3886.304068