Session Information
Date: Monday, September 23, 2019
Session Title: Rare Genetic and Metabolic Diseases
Session Time: 1:45pm-3:15pm
Location: Les Muses Terrace, Level 3
Objective: To describe a case of Creutzfeldt-Jakob disease with a M232R substitution (CJD 232) presented with parkinson look-alike syndrome and showed remarkably long survival time.
Background: CJD232 has been reported to have similar clinical features and EEG finding to sporadic CJD. However, recent studies suggest clinical phenotype of this mutation could be variable.
Method: Case Report: A 57 yo right-handed female with 6 months history of progressive slowing of movements presented in Oct. 2016. She had no family history of neurodegenerative diseases. Neurologic examination showed right side dominant parkinsonism (i.e., bradykinesia, resting tremor and rigidity, HY stage of 2.5). Cognitive function test was unremarkable. Brain MRI was normal and FP-CIT PET showed significant defects in nigrostriatal dopaminergic transmission bilaterally (figure 1). She started to take 300mg/d of L-dopa with periodic clinical monitoring. Thereafter, vertical saccade slowing was noted and her motor symptom worsened slowly even at L-dopa 600 mg/d. Her gait became bradykinetic without freezing or ataxia. 2 years after symptom onset, she developed rapidly progressive dementia with severe parkinsonism (HY 3). Within 6 months thereafter, she became akinetic mutism state. On neurologic examination, her mental status was normal. No myoclonus or ataxia were present. MRI demonstrated bilateral frontal atrophy which was not present previously. There was no periodic wave complex on EEG and no 14-3-3 protein in CSF.
Results: Genetic study showed a mutation at codon 232 of PRPN gene (figure 2).
Conclusion: This case suggests that, besides sporadic CJD, parkinson look-alike syndrome with long survival time could be possible phenotype of CJD232.
To cite this abstract in AMA style:
KO. Jung, H. Kim, JH. Park. Creutzfeldt-Jakob disease with a M232R substitution (CJD232) masquerading as parkinson look-alike syndrome [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/creutzfeldt-jakob-disease-with-a-m232r-substitution-cjd232-masquerading-as-parkinson-look-alike-syndrome/. Accessed December 11, 2024.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/creutzfeldt-jakob-disease-with-a-m232r-substitution-cjd232-masquerading-as-parkinson-look-alike-syndrome/