Familial Creutzfeldt-Jakob Disease in an Indian Kindred

被引：9

作者：

Katrak, Sarosh M. ^{[1
]}

Pauranik, Apoorva ^{[3
]}

Desai, Shrinivas B. ^{[2
]}

Mead, Simon ^{[4
]}

Beck, Jon ^{[4
]}

Brandner, Sebastian ^{[5
]}

Collinge, John ^{[4
]}

机构：

[1] Jaslok Hosp & Res Ctr, Dept Neurol, Dr G Deshmukh Marg, Mumbai 400026, Maharashtra, India

[2] Jaslok Hosp & Res Ctr, Dept Radiol, Mumbai, Maharashtra, India

[3] Pauranik Acad Med Educ, Indore, Madhya Pradesh, India

[4] UCL, MRC Prion Unit, Inst Prion Dis, Queens Sq, London, England

[5] Natl Hosp Neurol & Neurosurg, Div Neuropathol, Queens Sq, London, England

来源：

ANNALS OF INDIAN ACADEMY OF NEUROLOGY | 2019年 / 22卷 / 04期

基金：

英国医学研究理事会;

关键词：

D178N mutation; familial Creutzfeldt Jakob Disease; presenile dementia; protracted course; spongiform degeneration; INHERITED PRION DISEASE; DIAGNOSIS; INSERTION; INSOMNIA; MUTATION; GENE; CJD;

D O I：

10.4103/aian.AIAN_214_19

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：458 / 461

页数：4

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