Katie Kompoliti’s research while affiliated with Rush University Medical Center and other places

The lower prevalence of Parkinson disease (PD) in females is not well understood but may be partially explained by sex differences in nigrostriatal circuitry and possible neuroprotective effects of estrogen. PD motor and nonmotor symptoms differ between sexes, and women experience disparities in care including undertreatment with DBS and less access to caregiving. Our knowledge about PD in gender diverse individuals is limited. Future studies should improve our understanding of the role of hormone replacement therapy in PD, address gender-based inequities in PD care and expand our understanding of PD in SGM and marginalized communities.

Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget’s disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lateral sclerosis (ALS), among others. An international multidisciplinary consortium of 40+ experts in neuromuscular disease, dementia, movement disorders, psychology, cardiology, pulmonology, physical therapy, occupational therapy, speech and language pathology, nutrition, genetics, integrative medicine, and endocrinology were convened by the patient advocacy organization, Cure VCP Disease, in December 2020 to develop a standard of care for this heterogeneous and under-diagnosed disease. To achieve this goal, working groups collaborated to generate expert consensus recommendations in 10 key areas: genetic diagnosis, myopathy, FTD, PDB, ALS, Charcot Marie Tooth disease (CMT), parkinsonism, cardiomyopathy, pulmonology, supportive therapies, nutrition and supplements, and mental health. In April 2021, facilitated discussion of each working group’s conclusions with consensus building techniques enabled final agreement on the proposed standard of care for VCP patients. Timely referral to a specialty neuromuscular center is recommended to aid in efficient diagnosis of VCP MSP via single-gene testing in the case of a known familial VCP variant, or multi-gene panel sequencing in undifferentiated cases. Additionally, regular and ongoing multidisciplinary team follow up is essential for proactive screening and management of secondary complications. The goal of our consortium is to raise awareness of VCP MSP, expedite the time to accurate diagnosis, define gaps and inequities in patient care, initiate appropriate pharmacotherapies and supportive therapies for optimal management, and elevate the recommended best practices guidelines for multidisciplinary care internationally.

This chapter focuses on the following non‐parkinsonian movement disorders affecting the elderly: myoclonus, tremor, dystonia, tardive dyskinesia, chorea, functional movement disorders, and restless legs and periodic limb movements during sleep and while awake. These are mostly clinical diagnoses, and a through history and neurologic examination are crucial to establish the correct diagnosis. Non‐parkinsonian movement disorders in the elderly population are secondary phenomena, especially due to medication side effects and metabolic or hematologic conditions. It is therefore important to check for any potential underlying causes when evaluation a patient with new onset non‐parkinsonian movement disorders for the first time. Treatment modalities are mainly symptomatic. They should be initiated and adjusted based on the patient's subjective level of discomfort.

Background: TikTok is a social media platform where users create and share videos. During the COVID-19 pandemic, the use of this site greatly expanded. Tic and Tourette syndrome content also increased dramatically along with the number of patients with tics in neurology clinics. Objectives: We compared the phenomenology of "TikTok tics" to typical tic disorders. We chose to analyze the most widely viewed videos and therefore focused on the most popular content creators. Methods: Videos with the keywords "tic," "Tourette," or "tourettes" were reviewed to identify content creators between March 11, 2020 and March 30, 2021. We performed a quantitative assessment of TikTok tics as well as a descriptive analysis of the entire series of videos of each content creator. Results: The mean age of the cohort was 18.8 years old, and the majority were women. Unlike the predominance of facial movements in typical tics, arm movements were most frequent. Average tics per minute was 29, and almost all recorded TikTok tics were severe, causing significant disability. Whereas coprolalia and self-injurious behavior are only infrequently encountered in typical tic disorders, they were present in the overwhelming majority of TikTok subjects. Conclusions: TikTok tics are distinct from what is typically seen in patients with Tourette syndrome, although share many characteristics with functional tics. We believe this to be an example of mass sociogenic illness, which involves behaviors, emotions, or conditions spreading spontaneously through a group. A modern clinician needs to remain abreast of social media sources as knowledge of media content is essential in managing patients in the current environment.

Background: Cervical dystonia (CD) is the most common focal isolated dystonia. Preclinical studies report that AMPA-selective glutamate receptor antagonists improve dystonia. Perampanel is a clinically available, AMPA receptor antagonist that has shown efficacy and safety in epilepsy. Objectives: To determine safety and tolerability of perampanel in CD. Methods: We performed a phase 2a, open-label, multicenter study to evaluate tolerability and safety of perampanel in CD. Included subjects had primary CD; those on botulinum toxin were 8 weeks post last injection. All subjects received perampanel 2 mg/day, titrated 2 mg weekly over 6 weeks, to maximum 12 mg/day; maintenance phase was 4 weeks, ending at week 10. Primary endpoints included tolerability, defined as ability to remain on perampanel for the maintenance period, at any dose level and safety, determined from adverse events (AEs) collected at each visit. Secondary exploratory endpoints included Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), quality of life (cervical dystonia impact profile [CIDP]-58) and Clinical Global Impression of change (CGI). Results: CD participants (n = 25) were recruited. Eight subjects withdrew; 4 because of AEs, 3 for other reasons and 1 lost to follow up. One subject tolerated 12 mg/day. Eight subjects (30.8%) tolerated 2 mg, whereas 19.2% tolerated 4 mg/day, and 15.4% tolerated 6 mg or 8 mg/day. All subjects experienced AEs. The most common AEs were dizziness, imbalance, and irritability. Exploratory endpoints of TWSTRS showed some improved pain scores and CIDP-58 improved sleep. Conclusions: Tolerability to perampanel was variable in CD subjects. Lower doses would be considered for future studies in this population.

Introduction Functional Movement Disorders (FMDs) are challenging to treat. We assessed the effect of multidisciplinary inpatient rehabilitation, involving motor retraining, psychotherapy and psychotropic medication on FMD patient function and maintenance of improvement after one year. Methods FMD patients in a movement disorders clinic were referred for inpatient rehabilitation. Baseline, discharge and one year follow-up measures included: Clinical Global Impression (CGI-severity, CGI-change); Depression and Somatic Symptom Scale (DSSS); Generalized Anxiety Disorder-7 (GAD-7); Patient Health Questionnaire-9 (PHQ-9); Post-traumatic stress disorder check-list for DSM-5 (PCL-5). Outcomes were analyzed with non-parametric models. Results Seventeen patients completed rehabilitation. Thirteen completed one-year follow-up. Median CGI-severity was “markedly ill.” At discharge, movement disorder improved in 93% (median CGI-change = 2, “much improved”) as assessed by neurologist and patient. Psychiatrist ratings showed improvement among 86.7%; physiatrist and psychologist ratings were 66.7% and 53.3%, respectively. Symptoms improved on DSSS (Wilcoxon Z = −2.914, p ≤ 0.004); GAD-7 (Z = −3.045, p ≤ 0.002); PHQ-9 (Z = −3.415, p ≤ 0.01) but not PCL-5 (Z = −1.506, p = 0.132). At 1 year, 54% maintained at least minimal improvement by neurologist rating and 77% by patient rating (median CGI-change = 3, “minimally improved”). Improvement was not maintained for DSSS (Wilcoxon Z = −0.385. p = 0.701), GAD-7 (Z = −0.943, p = 0.357) or PHQ-9 (Z = −0.55, p = 0.582). Conclusions Multidisciplinary inpatient rehabilitation improved FMD patient function, depression, anxiety and somatic symptoms. One-year follow-up demonstrated minimal sustained improvement and worsening psychopathology, reflecting chronic debility despite initial rehabilitative success.

Tourette syndrome is a multifaceted disorder characterized by multiple motor and at least one vocal tics that start in childhood, persist for at least 1 year, and cannot be attributed to another medical condition or exposure to medications/drugs. Clinical diagnostic criteria are available, and identification of tics is typically straightforward based on characteristic appearance and features. Diagnostic uncertainty can rarely arise in cases of mild tics, atypical features, certain psychiatric comorbidities, and other non-tic movement disorders. Comorbid psychopathology, including attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive behaviors/obsessive-compulsive disorder, affects the majority of patients and is correlated with disease severity and the presence of additional psychiatric behaviors. The severity of tics often improves after adolescence, whereas psychiatric symptoms typically persist. The subset of patients in whom tics persist into adulthood experience higher rates of anxiety, and lower self-esteem, socioeconomic status, and quality of life; the relative contribution of motor tics and psychopathology is not fully understood. This article summarizes the clinical features of Tourette syndrome, including major diagnostic criteria, unique features of tics, and key aspects that differentiate tics from common mimics and chameleons. Comorbid psychiatric conditions and their impact on phenotype and quality of life are described. Finally, current understanding of the natural history is summarized, including limited research in adults with Tourette syndrome.

Background There is inadequate information on the morbidity and mortality (M&M) from neurological diseases in sub-Saharan Africa. Objective To record the M&M from neurological diseases in adults in Cameroon from 2013 to 2015 using a registry and surveillance from two urban health care centers. Methods Records from all adult admissions from two urban hospitals over a two year period were reviewed. Adult cases with neurological diagnosis as the main cause for admission were identified. The neurological diagnosis was made by a neurologist in all cases. Variables analyzed were: demographics, neurological diagnosis, medical history, medical center characteristics, morbidity and mortality (M&M). Neurological diseases were classified according to ICD-10. Results Among the 2225 neurological admissions of adults, death from neurological disease was recorded in 423 patients (19.01%), and disability in 819 of the survivors (53.6%). The factors that were significantly associated with death in the multivariate analysis were age, history of ischemic cardiac disease, and neurological diagnoses of CNS infection, cerebrovascular disease, and CNS tumor. Similarly, factors associated with disability were medical history of HIV, and cerebrovascular disease, and neurological diagnoses of cerebrovascular disease and CNS tumor. Higher educational level and epilepsy were associated with less disability. Conclusions As expected in this sample, older patients with neurological diseases had more M&M. Morbidity was inversely associated with education, which given that cerebrovascular disease is by far the most common cause of morbidity, indicates the power of risk factor control in preventing neurological disability.