Two First Cousins Died of Sporadic Creutzfeldt-Jakob Disease (P9-9.017).

Objective: NA.

Background: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, fatal brain disease. Sporadic CJD (sCJD) is the most common subtype without genetic cause. There have been no reports on biologically related family members who died from sCJD. Here, we report two first cousins (common paternal grandfather) who died of sCJD.

Design/methods: NA.

Results: Patient 1 was a 58-year-old white woman who became unusually quiet with mild aphasia since previous year, and then developed intermittent confusion, which progressed rapidly within 2-3 months, followed by myoclonus, tremor, tactile hallucinations, and gait abnormality. Encephalography (EEG) showed periodic spike and slow waves at a frequency of about 0.5Hz with a left fronto-temporal predominance throughout the recording and evidence of moderately severe diffuse encephalopathy. Cerebral Spinal Fluid (CSF) studies were unremarkable. Patient 2 was a man who was 2 years older than patient 1. At age of 63, he developed forgetfulness and mild gait abnormality, followed by visual hallucinations and myoclonus with startle, which progressed to catastrophic cognitive decline. EEG had no generalized or lateralized epileptiform discharges. CSF showed normal 14-3-3 and cytology. Both patients' Magnet Resonance Imaging (MRI) demonstrated patterns highly suggestive of CJD. Patients died 6 and 4 months after their initial symptoms, respectively. Genetic study failed to find pathogenic mutations of the prion protein gene, and autopsy confirmed their diagnosis of sCJD MM1 and VV1-2, respectively. Both patients were born in Grand Rapids, Michigan. Patient 2 moved to Florida in teenage years, and only visited Michigan in summers. They never lived or traveled together, only met occasionally at family reunion.

Conclusions: To our knowledge, this represents the first case report that two biologically related individuals were diagnosed of sporadic CJD, the mechanism is unknown, further investigation is warranted. Dr. Rong has nothing to disclose. Dr. Lannen has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Genentech. Dr. Lannen has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for TG Therapeutics. Dr. Lannen has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Horizon Theraputics. Dr. Andersen has nothing to disclose. Dr. Tank has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Neurelis. Dr. Min has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abbott . Dr. Min has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Medtronic . Dr. Chakraborty has nothing to disclose. Dr. Ahmed has stock in Doximity.