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Familial Creutzfeldt–Jakob disease with E200K mutation presenting with neurosensorial hypoacusis
Creutzfeldt–Jakob disease (CJD) is characterised by rapidly progressive dementia, myoclonus, ataxia, visual disturbances and motor dysfunction. Most of the cases are sporadic. Only 10% to 15% are familial, and the most frequent point mutation is E200K. A 53-year-old man presented with subacute progr...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3027793/ https://ncbi.nlm.nih.gov/pubmed/21734919 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.06.2009.2006 |
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