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 (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.

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Main Authors: 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
Format: Digital revista
Language:English
Published: Academia Brasileira de Neurologia - ABNEURO 2001
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200001
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spelling oai:scielo:S0004-282X20010002000012001-06-07Prion 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,Andrea prion protein mutation prion disease Creutzfeldt-Jakob disease frontotemporal dementia parkinsonism 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.59 n.2A 20012001-06-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200001en10.1590/S0004-282X2001000200001
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libraryname SciELO
language English
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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
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
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
title 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_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_sort prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17
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.
publisher Academia Brasileira de Neurologia - ABNEURO
publishDate 2001
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200001
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