Prions: Appleby et al.

Teleneurology for Research and Surveillance of Creutzfeldt-Jakob Disease

Brian S Appleby1,2, Kathleen Glisic1, Daniel R Rhoads1,3, Alberto Bizzi4, Mark L Cohen1,3, Supriya Mahajan5
1National Prion Disease Pathology Surveillance Center, Case Western University School of Medicine, 2Departments of Neurology and Psychiatry, Case Western Reserve University and University Hospitals Cleveland Medical Center, 3Department of Pathology, Case Western Reserve University and University Hospitals Cleveland Medical Center, 4Fondazione Instituto Neurologico Carlo Besta IRCCCS, Milan, Italy, 5Neurology Center, Inc., Lorain, Ohio

Background: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive dementia with an illness duration averaging approximately 4-6 months.  There are several challenges to conducting research and surveillance activities on CJD, including its rapid progression, difficulty to diagnosis, geographic dispersal, and rarity.  Several studies have been conducted examining the utility of using teleneurology for research purposes of neurologic diseases.  We conducted a feasibility study of using teleneurology for research and surveillance purposes in CJD.

Methods:  Subjects were included in the study if they met criteria for probable sporadic CJD (sCJD) or had a positive real-time quaking induced conversion (RT-QuIC) result.  Subjects and a research partner were given a choice of in-person visit, teleneurology visit, or medical record review only.  A standardized history and examination were collected as well as standardized instruments to measure cognition (Telephone Interview for Cognitive Status, TICS), functional status (MRC Prion Disease Rating Scale), and neuropsychiatric symptoms (Neuropsychiatric Inventory Questionnaire, NPI-Q).  For teleneurology visits, subjects participated in the evaluation using secure software (Cisco Jabber) that could be installed on any internet connected device with a camera of their choice.  Subjects were followed longitudinally on a monthly or bimonthly basis.  

Results: Over a 10-month period, the study received 81 referrals from 27 states.  All but two enrolled subjects (95%) chose the teleneurology arm of the study and the majority participated from their homes (88%).   Subjects and study partners expressed ease of use, convenience, and likelihood of recommending the teleneurology modality over other research modalities to potential participants.  The quality of the examination depended on subject cooperation as well as internet connectivity.  All but one participant proceeded to autopsy (95% autopsy rate).  

Discussion: This study demonstrates the feasibility of conducing research and surveillance activities of CJD subjects using teleneurology.  Subjects preferred this modality, felt comfortable with its use, and may have been more likely to proceed to autopsy given involvement in the study.   Further research should study the validity and reliability of instruments used to study this population remotely.