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Familial Creutzfeldt-Jakob disease in an Indian kindred

Katrak, S; Pauranik, A; Desai, S; Mead, S; Beck, J; Brandner, S; Collinge, J; (2019) Familial Creutzfeldt-Jakob disease in an Indian kindred. Annals of Indian Academy of Neurology , 22 (4) pp. 458-461. 10.4103/aian.AIAN_214_19. Green open access

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Abstract

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 Disease (fCJD). One affected member presented with a presenile dementia, a protracted clinical course and characateristic MRI features. Genetic analysis revealed a D178N mutation in the 2 affected individuals and 7 unaffected members. The neuropathological examination of the brain of one of the affected member was conspicuous by spongiform degeneration, neuronal loss and gliosis. This is a detailed report of a genetically and neuropathologically proven fCJD from India.

Type: Article
Title: Familial Creutzfeldt-Jakob disease in an Indian kindred
Open access status: An open access version is available from UCL Discovery
DOI: 10.4103/aian.AIAN_214_19
Publisher version: https://doi.org/10.4103/aian.AIAN_214_19
Language: English
Additional information: Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) https://creativecommons.org/licenses/by-nc-sa/4.0/
Keywords: D178N mutation, familial Creutzfeldt Jakob Disease, presenile dementia, protracted course, spongiform degeneration
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases > MRC Prion Unit at UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10086554
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