Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

Arquivos de Neuro-Psiquiatria

Ricardo Nitrini²  Luís Sidônio Teixeira Da Silva¹  Sérgio Rosemberg¹  Paulo Caramelli²  Paulo Eduardo Mestrinelli Carrilho²  Paula Iughetti¹  Maria Rita Passos-bueno¹  Mayana Zatz¹  Stephen Albrecht¹  Andrea Leblanc¹ 

[1] ,University of São Paulo Faculty of Medicine Department of NeurologySão Paulo,Brazil

关键词: prion protein mutation;    prion disease;    Creutzfeldt-Jakob disease;    frontotemporal dementia;    parkinsonism;    mutação da proteína priônica;    doença priônica;    doença de Creutzfeldt-Jakob;    demência frontotemporal;    parkinsonismo;   

DOI  :  10.1590/S0004-282X2001000200001

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License