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Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

R Nitrini1, L S Teixeira da Silva, S Rosemberg

  • 1Department of Neurology, Faculty of Medicine, University of São Paulo, São Paulo, Brazil. rnitrini@uol.com.br

Arquivos De Neuro-Psiquiatria
|June 16, 2001
PubMed
Abstract

Insights

Familial Creutzfeldt-Jakob disease (CJD) with a prion protein gene mutation presents with behavioral issues and parkinsonism, mimicking frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). This highlights CJD in FTDP-17 differential diagnoses.

Area of Science:

  • Neurodegenerative diseases
  • Prion diseases
  • Genetics

Background:

  • Prion diseases are rarely considered in the differential diagnosis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).
  • Familial Creutzfeldt-Jakob disease (CJD), the most common inherited prion disease, typically presents as rapidly progressive dementia.
  • FTDP-17 usually has an insidious onset in the fifth decade, characterized by abnormal behavior and parkinsonian features.

Purpose of the Study:

  • To compare the clinical features of a familial prion disease with those of FTDP-17.
  • To investigate the clinical presentation of CJD associated with a specific prion protein gene mutation.

Main Methods:

  • Clinical features of 12 patients from a family with CJD were analyzed.
  • The CJD cases were associated with a point mutation at codon 183 of the prion protein gene.

Main Results:

  • The mean age of onset was 44.0 ± 3.7 years.
  • Symptom duration ranged from two to nine years.
  • Predominant presenting symptoms included behavioral disturbances, with nine patients initially seen by psychiatrists. Eight patients exhibited parkinsonian signs.

Conclusions:

  • The clinical features observed in this familial CJD cohort closely resemble those described for FTDP-17.
  • This suggests that familial CJD should be considered in the differential diagnosis of FTDP-17.

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