Familial Creutzfeldt-Jakob Disease with V180I Mutation
Journal of Korean Medical Science
;
: 1097-1100, 2010.
Artigo
em Inglês
| WPRIM
| ID: wpr-155851
ABSTRACT
Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutations in the prion protein gene (PRNP), account for an estimated 10 to 15% of all CJD cases. We report a 75-yr-old woman with familial CJD carrying a V180I mutation which features late onset, slow progression, no periodic sharp wave complexes on electroencephalography, and extensive cortical ribboning with spared the cerebellum and the medial occipital lobes posterior to the parieto-occipital sulcus on MRI. To our knowledge, this is the first documented case of a point mutation at codon 180 in South Korea.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Príons
/
Códon
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Síndrome de Creutzfeldt-Jakob
/
Mutação Puntual
/
República da Coreia
/
Testes Neuropsicológicos
Limite:
Idoso
/
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2010
Tipo de documento:
Artigo
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