Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17
OBJECTIVE: To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). BACKGROUND: Prion diseases are not usually considered in the differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease (...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
2001-01-01
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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=S0004-282X2001000200001 |
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| author | Nitrini Ricardo Silva Luís Sidônio Teixeira da Rosemberg Sérgio Caramelli Paulo Carrilho Paulo Eduardo Mestrinelli Iughetti Paula Passos-Bueno Maria Rita Zatz Mayana Albrecht Stephen LeBlanc Andrea |
| author_facet | Nitrini Ricardo Silva Luís Sidônio Teixeira da Rosemberg Sérgio Caramelli Paulo Carrilho Paulo Eduardo Mestrinelli Iughetti Paula Passos-Bueno Maria Rita Zatz Mayana Albrecht Stephen LeBlanc Andrea |
| author_sort | Nitrini Ricardo |
| collection | DOAJ |
| description | OBJECTIVE: To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). BACKGROUND: Prion diseases are not usually considered in the differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease (CJD), the most common inherited prion disease, often manifests as a rapidly progressive dementia. Conversely, FTDP-17 usually has an insidious onset in the fifth decade, with abnormal behavior and parkinsonian features. METHOD: We present the clinical features of 12 patients from a family with CJD associated with a point mutation at codon 183 of the prion protein gene. RESULTS: The mean age at onset was 44.0 ± 3.7; the duration of the symptoms until death ranged from two to nine years. Behavioral disturbances were the predominant presenting symptoms. Nine patients were first seen by psychiatrists. Eight patients manifested parkinsonian signs. CONCLUSION: These clinical features bear a considerable resemblance to those described in FTDP-17. |
| format | Article |
| id | doaj-art-2c449de9a8ac489b898a242840dfd60a |
| institution | DOAJ |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 2001-01-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-2c449de9a8ac489b898a242840dfd60a2025-08-20T03:18:38ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42272001-01-01592A161164Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17Nitrini RicardoSilva Luís Sidônio Teixeira daRosemberg SérgioCaramelli PauloCarrilho Paulo Eduardo MestrinelliIughetti PaulaPassos-Bueno Maria RitaZatz MayanaAlbrecht StephenLeBlanc AndreaOBJECTIVE: To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). BACKGROUND: Prion diseases are not usually considered in the differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease (CJD), the most common inherited prion disease, often manifests as a rapidly progressive dementia. Conversely, FTDP-17 usually has an insidious onset in the fifth decade, with abnormal behavior and parkinsonian features. METHOD: We present the clinical features of 12 patients from a family with CJD associated with a point mutation at codon 183 of the prion protein gene. RESULTS: The mean age at onset was 44.0 ± 3.7; the duration of the symptoms until death ranged from two to nine years. Behavioral disturbances were the predominant presenting symptoms. Nine patients were first seen by psychiatrists. Eight patients manifested parkinsonian signs. CONCLUSION: These clinical features bear a considerable resemblance to those described in FTDP-17.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200001prion protein mutationprion diseaseCreutzfeldt-Jakob diseasefrontotemporal dementiaparkinsonism |
| spellingShingle | Nitrini Ricardo Silva Luís Sidônio Teixeira da Rosemberg Sérgio Caramelli Paulo Carrilho Paulo Eduardo Mestrinelli Iughetti Paula Passos-Bueno Maria Rita Zatz Mayana Albrecht Stephen LeBlanc Andrea Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17 Arquivos de Neuro-Psiquiatria prion protein mutation prion disease Creutzfeldt-Jakob disease frontotemporal dementia parkinsonism |
| title | Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17 |
| title_full | Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17 |
| title_fullStr | Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17 |
| title_full_unstemmed | Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17 |
| title_short | Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17 |
| title_sort | prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17 |
| topic | prion protein mutation prion disease Creutzfeldt-Jakob disease frontotemporal dementia parkinsonism |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200001 |
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