Tipton, Philip W.

AbstractBackgroundParkinson’s disease (PD) is a complex neurodegenerative disease in which combinations of motor and non‐motor symptoms result in a wide range of phenotypic presentations and disease progression. Precise characterization of these clinical endophenotypes can guide clinical practice. Such endophenotypes can also be powerful to identify genetic factors for complex diseases, like PD. Given the prevalence and impact of cognitive impairment in PD, we aimed to characterize cognitive endophenotypes in a cohort of PD patients with longitudinal assessments.MethodWe reviewed the medical records of 1028 individuals diagnosed with PD by a movement disorders specialist at our institution. We extracted scores from all available Mini‐Mental Status Examinations (MMSE). We fit proportional odds models with patient specific random effects to estimate odds ratios for higher versus lower cognition in association with age, sex and follow‐up time.ResultAmong the 237 patients with at least one MMSE, 108 had ≥2 time points and 118 were cognitively impaired (MMSE<27). The mean age was 71 years, 63 (27%) were female and the mean follow‐up time was 2.56 years. Overall, females with PD had higher MMSE scores than males with an odds ratio at age 70 of 2.43 (95% CI: 1.29, 4.97). However, MMSE scores decline with age at a faster rate in females than males (p=0.002) with ORs for a 1 year of 0.85 (0.79, 0.91) and 0.94 (95%CI: 0.91, 0.97), respectively. Within patients, declines in MMSE per year had an OR of 0.76 (0.60, 0.97) for females and 0.85 (0.75, 0.95) for males though this difference was not statistically significant. Corresponding expected MMSE trajectories are shown in the figure.ConclusionOur findings demonstrate sex differences in the cognitive phenotypes of PD. In particular, cognitive scores tend to be higher in females compared to males, but decline faster in females. These findings have clinical implications regarding counseling of patients with PD. We are currently expanding this approach to specific cognitive domains, other validated tests of cognition, and investigating the influence of genetic risk factors, such as APOE on cognitive decline in PD.

PolyQ ATXN3 is a pharmacodynamic marker for SCA3, and a SNP associated with the expanded allele may serve to specifically target mutant ATXN3 .

Background: With increasing demand for neurologists, nontraditional health care delivery mechanisms have been developed to leverage this limited resource. Introduction: Telemedicine has emerged as an effective digital solution. Over the past three decades, telemedicine use has steadily grown; however, neurologists often learn on the job, rather than as part of their medical training. The current literature regarding telestroke training during neurology training is sparse, focusing on cerebrovascular fellowship curricula. We sought to enhance telestroke training in our neurology residency by incorporating real-life application. Materials and Methods: We implemented a formal educational model for neurology residents to use telemedicine for remote acquisition of the National Institutes of Health Stroke Scale (NIHSS) for patients with suspected acute ischemic stroke (AIS) before arrival at our comprehensive stroke center. This three-phase educational model involved multidisciplinary classroom didactics, simulation exercises, and real-world experience. Training and feedback were provided by neurologists experienced in telemedicine. Results: All residents completed formal training in telemedicine prehospital NIHSS acquisition and had the opportunity to participate in additional simulation exercises. Currently, residents are gaining additional experience by performing prehospital NIHSS acquisition for patients in whom AIS is suspected. Our preliminary data indicate that resident video encounters average 10.6 min in duration, thus saving time once patients arrive at our hospital. Discussion: To our knowledge, this is the first report of a telestroke-integrated neurology residency program in a comprehensive stroke center resulting in shortened time to treatment in patients with suspected AIS. Conclusions: We present a model that can be adopted by other neurology residency programs as it provides real-world telemedicine training critical to future neurologists.