Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
Neurology
; 42(3 Pt 1): 669-70, 1992 Mar.
Article
em En
| MEDLINE
| ID: mdl-1347910
ABSTRACT
Fatal familial insomnia (FFI), a condition characterized by inability to sleep, dysautonomia, motor disturbances, and selective thalamic atrophy is a prion disease linked to a GAC----AAC mutation at codon 178 of the prion gene. These data were obtained from one kindred. We now report a second kindred affected by FFI and carrying the same mutation. The finding of the same disease phenotype and genotype in a second family further validates FFI as a distinct disease entity and a phenotype of the GAC----AAC mutation at codon 178 of the prion gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Príons
/
Distúrbios do Início e da Manutenção do Sono
/
Mutação
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neurology
Ano de publicação:
1992
Tipo de documento:
Article