Familial Creutzfeldt-Jakob disease in an Indian kindred
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 D...
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doaj-ab89a9d73ec84d31a729636a970f1b942020-11-25T01:56:35ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492019-01-0122445846110.4103/aian.AIAN_214_19Familial Creutzfeldt-Jakob disease in an Indian kindredSarosh M KatrakApoorva PauranikShrinivas B DesaiSimon MeadJon BeckSebastian BrandnerJohn CollingeIt 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.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=4;spage=458;epage=461;aulast=Katrakd178n mutationfamilial creutzfeldt jakob diseasepresenile dementiaprotracted coursespongiform degeneration |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sarosh M Katrak Apoorva Pauranik Shrinivas B Desai Simon Mead Jon Beck Sebastian Brandner John Collinge |
spellingShingle |
Sarosh M Katrak Apoorva Pauranik Shrinivas B Desai Simon Mead Jon Beck Sebastian Brandner John Collinge Familial Creutzfeldt-Jakob disease in an Indian kindred Annals of Indian Academy of Neurology d178n mutation familial creutzfeldt jakob disease presenile dementia protracted course spongiform degeneration |
author_facet |
Sarosh M Katrak Apoorva Pauranik Shrinivas B Desai Simon Mead Jon Beck Sebastian Brandner John Collinge |
author_sort |
Sarosh M Katrak |
title |
Familial Creutzfeldt-Jakob disease in an Indian kindred |
title_short |
Familial Creutzfeldt-Jakob disease in an Indian kindred |
title_full |
Familial Creutzfeldt-Jakob disease in an Indian kindred |
title_fullStr |
Familial Creutzfeldt-Jakob disease in an Indian kindred |
title_full_unstemmed |
Familial Creutzfeldt-Jakob disease in an Indian kindred |
title_sort |
familial creutzfeldt-jakob disease in an indian kindred |
publisher |
Wolters Kluwer Medknow Publications |
series |
Annals of Indian Academy of Neurology |
issn |
0972-2327 1998-3549 |
publishDate |
2019-01-01 |
description |
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. |
topic |
d178n mutation familial creutzfeldt jakob disease presenile dementia protracted course spongiform degeneration |
url |
http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=4;spage=458;epage=461;aulast=Katrak |
work_keys_str_mv |
AT saroshmkatrak familialcreutzfeldtjakobdiseaseinanindiankindred AT apoorvapauranik familialcreutzfeldtjakobdiseaseinanindiankindred AT shrinivasbdesai familialcreutzfeldtjakobdiseaseinanindiankindred AT simonmead familialcreutzfeldtjakobdiseaseinanindiankindred AT jonbeck familialcreutzfeldtjakobdiseaseinanindiankindred AT sebastianbrandner familialcreutzfeldtjakobdiseaseinanindiankindred AT johncollinge familialcreutzfeldtjakobdiseaseinanindiankindred |
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1724979048233304064 |