Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene
Creutzfeldt-Jakob disease (CJD), the most known human prion disease, is usually sporadic but approximately 15% of the cases are familial. To date, seven CJD cases with codon 210 mutation (GTT to ATT) have been reported in the literature. We describe a case of a 57 year-old woman who presented gait d...
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| Language: | English |
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Thieme Revinter Publicações
2001-12-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000600017&tlng=en |
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| author | Nancy Huang Suely K.N. Marie Fernando Kok Ricardo Nitrini |
| author_facet | Nancy Huang Suely K.N. Marie Fernando Kok Ricardo Nitrini |
| author_sort | Nancy Huang |
| collection | DOAJ |
| description | Creutzfeldt-Jakob disease (CJD), the most known human prion disease, is usually sporadic but approximately 15% of the cases are familial. To date, seven CJD cases with codon 210 mutation (GTT to ATT) have been reported in the literature. We describe a case of a 57 year-old woman who presented gait disturbances and rapidly progressive dementia, leading to death four months after onset. Electroencephalogram revealed periodic activity, diffusion-weighted magnetic resonance imaging showed hypersignal in basal ganglia, and test for 14-3-3 protein was strongly positive in the CSF. The complete prion protein gene coding region was sequenced after PCR amplification, showing a point mutation in codon 210. This is the first case of CJD with codon 210 mutation diagnosed in Brazil. We emphasize the role of genetic search for prion protein gene mutation, even in patients presenting clinical features resembling sporadic CJD. |
| format | Article |
| id | doaj-art-0e7266b48f9a4e3d8a47f6aa5fe62e0f |
| institution | Kabale University |
| issn | 1678-4227 |
| language | English |
| publishDate | 2001-12-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-0e7266b48f9a4e3d8a47f6aa5fe62e0f2025-08-20T03:54:29ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272001-12-01594932935Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein geneNancy Huang0Suely K.N. Marie1Fernando Kok2Ricardo Nitrini3University of São PauloUniversity of São PauloUniversity of São PauloUniversity of São PauloCreutzfeldt-Jakob disease (CJD), the most known human prion disease, is usually sporadic but approximately 15% of the cases are familial. To date, seven CJD cases with codon 210 mutation (GTT to ATT) have been reported in the literature. We describe a case of a 57 year-old woman who presented gait disturbances and rapidly progressive dementia, leading to death four months after onset. Electroencephalogram revealed periodic activity, diffusion-weighted magnetic resonance imaging showed hypersignal in basal ganglia, and test for 14-3-3 protein was strongly positive in the CSF. The complete prion protein gene coding region was sequenced after PCR amplification, showing a point mutation in codon 210. This is the first case of CJD with codon 210 mutation diagnosed in Brazil. We emphasize the role of genetic search for prion protein gene mutation, even in patients presenting clinical features resembling sporadic CJD.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000600017&tlng=enfamilial Creutzfeldt-Jakob diseaseprion protein gene mutationcodon 21014-3-3 protein |
| spellingShingle | Nancy Huang Suely K.N. Marie Fernando Kok Ricardo Nitrini Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene Arquivos de Neuro-Psiquiatria familial Creutzfeldt-Jakob disease prion protein gene mutation codon 210 14-3-3 protein |
| title | Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene |
| title_full | Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene |
| title_fullStr | Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene |
| title_full_unstemmed | Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene |
| title_short | Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene |
| title_sort | familial creutzfeldt jakob disease associated with a point mutation at codon 210 of the prion protein gene |
| topic | familial Creutzfeldt-Jakob disease prion protein gene mutation codon 210 14-3-3 protein |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000600017&tlng=en |
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