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Updated: Oct 9, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Diffusion-weighted MRI in two cases of familial Creutzfeldt--Jakob disease
R Nitrini1, R A Mendonça, N Huang
1Department of Neurology, São Paulo Medical School, University of São Paulo, São Paulo, Brazil. rnitrini@uol.com.br
Abstract:
Diffusion-weighted magnetic resonance imaging (DWI) has been described as a useful tool for the diagnosis of sporadic Creutzfeldt--Jakob disease (CJD). To our knowledge, DWI abnormalities have not previously been reported in familial CJD. In two patients with familial CJD associated with distinct mutations at codon 183 and at codon 210 of the prion protein gene, DWI showed a high signal in the basal ganglia and in the cerebral cortex. These abnormalities are similar to those described in sporadic CJD. This observation expands the value of DWI for the diagnosis of some forms of familial CJD. It remains to be investigated whether this finding also holds for CJD associated with other mutations of the prion protein gene.
Insights
Diffusion-weighted imaging (DWI) can now aid in diagnosing familial Creutzfeldt-Jakob disease (CJD). Abnormal DWI findings in the brain were observed in two familial CJD patients, similar to sporadic CJD cases.
Area of Science:
- Neuroimaging
- Neurology
- Genetics
Background:
- Diffusion-weighted magnetic resonance imaging (DWI) is a key diagnostic tool for sporadic Creutzfeldt-Jakob disease (CJD).
- Previous reports have not documented DWI abnormalities in familial CJD cases.
Observation:
- Two patients with familial CJD, harboring mutations at codons 183 and 210 of the prion protein gene, were studied.
- DWI revealed high signal intensities in the basal ganglia and cerebral cortex in both patients.
Findings:
- The observed DWI abnormalities in familial CJD patients resemble those seen in sporadic CJD.
- This suggests a potential diagnostic role for DWI in certain forms of familial CJD.
Implications:
- DWI may be valuable for diagnosing familial CJD beyond sporadic forms.
- Further research is needed to confirm these findings across other prion protein gene mutations.
