Familial Creutzfeldt-Jakob disease in an Indian kindred

Familial Creutzfeldt-Jakob disease in an Indian kindred

It is now known that the inherited prion disease is caused by over 60 different mutations in the Prion protein (PRNP) gene. Four missense mutations at codons 102, 178, 200 and 210, account for over 95% of these cases. In this study we describe, a large Indian family with familial Creutzfeldt Jakob D...

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Bibliographic Details
Main Authors: Sarosh M Katrak, Apoorva Pauranik, Shrinivas B Desai, Simon Mead, Jon Beck, Sebastian Brandner, John Collinge
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
d178n mutation
familial creutzfeldt jakob disease
presenile dementia
protracted course
spongiform degeneration
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=4;spage=458;epage=461;aulast=Katrak

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=4;spage=458;epage=461;aulast=Katrak

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