Open AccessFamilial Creutzfeldt-Jakob disease in an Indian kindred
Author(s) -
Sarosh M. Katrak,
Apoorva Pauranik,
Sanjay Desai,
Simon Mead,
Jon Beck,
Sebastian Brandner,
John Collinge
Publication year - 2019
Publication title -
annals of indian academy of neurology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/aian.aian_214_19
Subject(s) - missense mutation , gliosis , prnp , medicine , disease , prion protein , dementia , neuropathology , mutation , pathology , genetics , creutzfeldt jakob syndrome , gene , biology
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.