Familial Creutzfeldt-Jakob disease in an Indian kindred

• Published in: Annals of the Indian Academy of Neurology Vol. 22; no. 4; pp. 458 - 461
• Main Authors: Katrak, Sarosh, Pauranik, Apoorva, Desai, Shrinivas, Mead, Simon, Beck, Jon, Brandner, Sebastian, Collinge, John
• Format: Journal Article
• Language: English
• Published: India Wolters Kluwer India Pvt. Ltd 01.10.2019; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd; Wolters Kluwer - Medknow; Wolters Kluwer Medknow Publications
• Subjects: Age; Codons; Creutzfeldt-Jakob disease; d178n mutation; Dementia; Dementia disorders; Diagnosis; Diagnostic imaging; EDTA; familial creutzfeldt jakob disease; Family; Gene mutation; Genes; Genetic analysis; Genetic aspects; Genetic engineering; Genetic research; Genotype & phenotype; Gliosis; Health aspects; Illnesses; Magnetic resonance imaging; Memory; Missense mutation; Mutation; Neurodegeneration; NMR; Nuclear magnetic resonance; Original; presenile dementia; Prion protein; Prions (Proteins); Proteins; protracted course; spongiform degeneration; India; familial Creutzfeldt Jakob Disease; spongiform degeneration; protracted course; presenile dementia; D178N mutation
• ISSN: 0972-2327; 1998-3549
• DOI: 10.4103/aian.AIAN_214_19

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.