Related Experiment Videos
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
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.
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.