Familial Creutzfeldt-Jakob Disease in an Indian Kindred.
D178N mutation
familial Creutzfeldt Jakob Disease
presenile dementia
protracted course
spongiform degeneration
Journal
Annals of Indian Academy of Neurology
ISSN: 0972-2327
Titre abrégé: Ann Indian Acad Neurol
Pays: India
ID NLM: 101273955
Informations de publication
Date de publication:
Historique:
received:
16
04
2019
revised:
28
04
2019
accepted:
02
05
2019
entrez:
19
11
2019
pubmed:
19
11
2019
medline:
19
11
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31736569
doi: 10.4103/aian.AIAN_214_19
pii: AIAN-22-458
pmc: PMC6839320
doi:
Types de publication
Journal Article
Langues
eng
Pagination
458-461Subventions
Organisme : Medical Research Council
ID : MC_U123160651
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00024/1
Pays : United Kingdom
Informations de copyright
Copyright: © 2006 - 2019 Annals of Indian Academy of Neurology.
Déclaration de conflit d'intérêts
There are no conflicts of interest.
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