Abstract Details

Title A Case of Genetic Creutzfeldt-Jakob Disease

Topic Infections/AIDS/Prion Disease

Presentation(s) P03 - (-)

Poster/Presentation
Number 257

Objective

Background BACKGROUND: Creutzfeldt-Jakob disease is a progressive and ultimately fatal prion disease with an incidence of one per one million per year and gCJD accounts for 5-15% of all cases. Since initial case reports of V210I mutations emerged it has become clear that there is significant geographical variability in the incidence of this mutation. V210I is associated with incomplete penetrance and there can be an absence of positive family history.

Design/Methods DESIGN/METHODS: We describe the clinical presentation of a case of gCJD and the results of diagnostic testing, including electroencephalography (EEG), cerebrospinal fluid analysis, magnetic resonance imaging (MRI), and PRNP sequencing.

Results RESULTS: A 69-year-old male biophysics professor without significant neurological family history presented with progressive cognitive slowing and visual symptoms including diplopia, metamorphopsia, and altered depth perception, and later tremor, fine motor incoordination, and subjective imbalance. Examination revealed bradyphrenia, inattention, impaired eye movements, ataxia, sensory abnormalities, and gait disturbance. Higher order testing of visual processing revealed substantial deficits across multiple domains. EEG findings progressed from normal to bifrontal slowing and intermixed sharp wave activity over 10 days. Cerebrospinal fluid analysis for 14-3-3 protein was ambiguous and tau was elevated. Head MRI showed a non-enhancing gyriform pattern of increased T2 and DWI signal within the right parietal, occipital, and posterior frontal cortex. He died 3 months after symptom onset. Sequencing of the PRNP revealed a V210I-129M mutation.

Conclusions CONCLUSIONS: We describe the clinical features and diagnostic results from a case of gCJD caused by a V210I-129M mutation. This case serves as a reminder of the importance of performing PRNP sequence analysis in cases of apparent sporadic CJD.

Authors/Disclosures
Ruth Schneider, MD, FAAN (University of Rochester) PRESENTER	Dr. Schneider has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Escape Bio. The institution of Dr. Schneider has received research support from The Michael J. Fox Foundation. The institution of Dr. Schneider has received research support from NIH. The institution of Dr. Schneider has received research support from Acadia Pharmaceuticals. The institution of Dr. Schneider has received research support from CHDI. The institution of Dr. Schneider has received research support from Biohaven Pharmaceuticals. The institution of Dr. Schneider has received research support from Parkinson Study Group. The institution of Dr. Schneider has received research support from The Michael J. Fox Foundation. The institution of Dr. Schneider has received research support from Bial. Dr. Schneider has received personal compensation in the range of $500-$4,999 for serving as a Telemedicine Evaluator with Parkinson's Foundation.
Timothy Cunniff, PharmD	Dr. Cunniff has received personal compensation for serving as an employee of Paragon Biosciences. Dr. Cunniff has stock in Harmony Biosciences. Dr. Cunniff has stock in Emalex Biosciences.
Andrew Huffer, MD (VA Puget Sound Healthcare System)	No disclosure on file
	No disclosure on file
Charles J. Duffy, MD, PhD	Dr. Duffy has nothing to disclose.

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