presenting as cerebellar ataxia without insomnia Fatal familial insomnia (FFI) is a prion disease clinically characterised by progressive insomnia and dysautonomia, and associated with an aspartic acid to asparagine mutation at the codon 178 (D178N) of the prion pro-tein gene (PRNP).1 This mutation is also associated with familial Creutzfeldt-Jakob disease (CJD). These phenotypes have been held to depend on the polymorphism at the codon 129. FFI and CJD phenotypes are associated with methionine (129M) and valine (129V) polymorphisms, respectively.2 However, the diverse phenotypes can b
Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein...
We report a case of genetic Creutzfeldt-Jakob disease (gCJD). The 51-year-old male complained of sle...
Human Transmissible Spongiform Encephalopaties (TSEs) or prion diseases occur in sporadic, acquired...
presenting as cerebellar ataxia without insomnia Fatal familial insomnia (FFI) is a prion disease cl...
Hereditary prion disease is a fatal genetic disorder of autosomal dominant inheritance. Recent pheno...
This review study was carried out to educate people about a rare genetic disorder that is fatal fami...
Fatal familial insomnia (FFI) is an inherited prion disease linked to a mutation at codon 178 of the...
Prion diseases are unique transmissible neurodegenerative diseases that have diverse phenotypes and ...
Human prion diseases are a group of rare neurodegenerative disorders characterized by the conversion...
Prion diseases are thought to be caused by the con-version of the normal, or cellular, prion protein...
<div><p>Fatal familial insomnia (FFI) and a genetic form of Creutzfeldt-Jakob disease (CJD<sup>178</...
Creutzfeldt-Jakob disease (CJD) is the commonest form of transmissible spongiform encephalopathy in ...
Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar o...
A characteristic feature of Creutzfeldt-jakob disease (CJD) is the accumulation in the brain of the ...
Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein...
Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein...
We report a case of genetic Creutzfeldt-Jakob disease (gCJD). The 51-year-old male complained of sle...
Human Transmissible Spongiform Encephalopaties (TSEs) or prion diseases occur in sporadic, acquired...
presenting as cerebellar ataxia without insomnia Fatal familial insomnia (FFI) is a prion disease cl...
Hereditary prion disease is a fatal genetic disorder of autosomal dominant inheritance. Recent pheno...
This review study was carried out to educate people about a rare genetic disorder that is fatal fami...
Fatal familial insomnia (FFI) is an inherited prion disease linked to a mutation at codon 178 of the...
Prion diseases are unique transmissible neurodegenerative diseases that have diverse phenotypes and ...
Human prion diseases are a group of rare neurodegenerative disorders characterized by the conversion...
Prion diseases are thought to be caused by the con-version of the normal, or cellular, prion protein...
<div><p>Fatal familial insomnia (FFI) and a genetic form of Creutzfeldt-Jakob disease (CJD<sup>178</...
Creutzfeldt-Jakob disease (CJD) is the commonest form of transmissible spongiform encephalopathy in ...
Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar o...
A characteristic feature of Creutzfeldt-jakob disease (CJD) is the accumulation in the brain of the ...
Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein...
Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein...
We report a case of genetic Creutzfeldt-Jakob disease (gCJD). The 51-year-old male complained of sle...
Human Transmissible Spongiform Encephalopaties (TSEs) or prion diseases occur in sporadic, acquired...