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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Bibliografiske detaljer
Udgivet i:Ann Indian Acad Neurol
Main Authors: Katrak, Sarosh M., Pauranik, Apoorva, Desai, Shrinivas B., Mead, Simon, Beck, Jon, Brandner, Sebastian, Collinge, John
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer - Medknow 2019
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Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6839320/
https://ncbi.nlm.nih.gov/pubmed/31736569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_214_19
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