Annals of Indian Academy of Neurology
ORIGINAL ARTICLE
Year
: 2019  |  Volume : 22  |  Issue : 4  |  Page : 458--461

Familial Creutzfeldt-Jakob disease in an Indian kindred


Sarosh M Katrak1, Apoorva Pauranik2, Shrinivas B Desai3, Simon Mead4, Jon Beck4, Sebastian Brandner5, John Collinge4 
1 Department of Neurology, Jaslok Hospital and Research Centre, Mumbai, India
2 Pauranik Academy of Medical Education, Indore, Madhya Pradesh, India
3 Department of Radiology, Jaslok Hospital and Research Centre, Mumbai, India
4 MRC Prion Unit at UCL, Institute of Prion Diseases, London, UK
5 Division of Neuropathology, National Hospital for Neurology and Neurosurgery, Queens Square, London, UK

Correspondence Address:
Dr. Sarosh M Katrak
Department of Neurology, Jaslok Hospital and Research Centre, Dr. G. Deshmukh Marg, Mumbai 400 026
India

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.


How to cite this article:
Katrak SM, Pauranik A, Desai SB, Mead S, Beck J, Brandner S, Collinge J. Familial Creutzfeldt-Jakob disease in an Indian kindred.Ann Indian Acad Neurol 2019;22:458-461


How to cite this URL:
Katrak SM, Pauranik A, Desai SB, Mead S, Beck J, Brandner S, Collinge J. Familial Creutzfeldt-Jakob disease in an Indian kindred. Ann Indian Acad Neurol [serial online] 2019 [cited 2020 Sep 24 ];22:458-461
Available from: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=4;spage=458;epage=461;aulast=Katrak;type=0