Clinical features of Creutzfeldt-Jakob disease with V180I mutation.
Neurology
; 62(3): 502-5, 2004 Feb 10.
Article
em En
| MEDLINE
| ID: mdl-14872044
ABSTRACT
The authors describe the clinical features of Creutzfeldt-Jakob disease (CJD) with the causative point mutation at codon 180. The symptoms never started with visual or cerebellar involvement. The patients showed slower progression of the disease compared with sporadic CJD. They never showed periodic sharp and wave complexes in EEG. MRI demonstrated remarkable high-intensity areas with swelling in the cerebral cortex except for the medial occipital and cerebellar cortices. These characteristic MRI findings are an important clue for an accurate premortem diagnosis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Precursores de Proteínas
/
Síndrome de Creutzfeldt-Jakob
/
Amiloide
Tipo de estudo:
Diagnostic_studies
Limite:
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neurology
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Japão