Analysis for clinical and genetic characteristics of a sporadic FFI case / 中华实验和临床病毒学杂志
Chinese Journal of Experimental and Clinical Virology
; (6): 124-126, 2009.
Article
em Zh
| WPRIM
| ID: wpr-332408
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To report and study a case of sporadic family fatal insomnia (SFFI) on its.</p><p><b>METHODS</b>Investigate clinical characteristics and family disease history of a suspect FFI patient. His clinical characteristic was analyzed, he and his 14 family members genomic DNA was extracted by standard techniques from their and blood detected with polymerase chain reaction (PCR) method and DNA sequencing to find out his prion protein (PrP) gene mutation. The patient's CSF was detected with Western-Blot method for 14-3-3 brain protein.</p><p><b>RESULTS</b>The patient was diagnosed as an sporadic FFI by his developed sleep disturbance and changes in sleep-awake rhythm, motor abnormalities, mental disorder, dementia, autonomic dysfunction; his family history; his 14-3-3 brain protein-positive (CSF) and analysis results of his PrP gene (codon point mutation D178N and methionine homozygosity at position 129M/M). Suggesting that in the future to identify CJD and FFI patients, screening should focus on clinical symptoms and laboratory results. The PrP gene of 14 family members did not appear Mutation, and there is no person suffering from the same disease.</p><p><b>CONCLUSIONS</b>The case was diagnosed as a sporadic familial fatal insomnia. Analysis of suspicious patients' genomic DNA for PrP gene mutation might be very important for FFI diagnosis because there exist many difficulties in clinical laboratory evaluation. This patient might be the first SFFI patient reported in China and the case finding might have momentousness in clinical and basical study.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Proteínas PrPSc
/
Insônia Familiar Fatal
/
Proteínas 14-3-3
/
Genética
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Experimental and Clinical Virology
Ano de publicação:
2009
Tipo de documento:
Article