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Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome

Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2532919151

Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome

About this item

Full title

Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome

Publisher

Mumbai: Wolters Kluwer India Pvt. Ltd

Journal title

Neurology India, 2020-11, Vol.68 (6), p.1431-1434

Language

English

Formats

Publication information

Publisher

Mumbai: Wolters Kluwer India Pvt. Ltd

More information

Scope and Contents

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...

Alternative Titles

Full title

Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2532919151

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2532919151

Other Identifiers

ISSN

0028-3886

E-ISSN

1998-4022

DOI

10.4103/0028-3886.304068

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