Annals of Indian Academy of Neurology
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Familial Creutzfeldt-Jakob disease in an Indian kindred

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:
Sarosh M Katrak,
Department of Neurology, Jaslok Hospital and Research Centre, Dr. G. Deshmukh Marg, Mumbai 400 026
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Source of Support: None, Conflict of Interest: None

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.

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    -  Katrak SM
    -  Pauranik A
    -  Desai SB
    -  Mead S
    -  Beck J
    -  Brandner S
    -  Collinge J
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