ABSTRACT
INTRODUCTION: Evaluation by an epileptologist can help distinguish epileptic seizures from seizure mimickers. Proper and timely diagnosis of a seizure or new onset epilepsy is of critical importance due to implications regarding treatment, prognosis, quality of life, morbidity, and mortality. The goal of our study is to describe the demographics and clinical characteristics of patients referred to a first seizure clinic at a tertiary academic center within Chicago, Illinois. METHODS: This is a retrospective cohort study of adult patients referred to our clinic. Patients were identified through the electronic medical record from March 2021 to March 2022. Charts were reviewed to assess pertinent clinical characteristics and patient demographic data. RESULTS: A total of 123 out of 138 (89.0 %) scheduled patients checked in to the visit between March 2021-March 2022, of which 87/123 (70.7 %) were diagnosed with a seizure. Other diagnoses included syncope (17/123, 13.8 %), undifferentiated event (16/123, 13.0 %), suspected psychogenic non-epileptic event (2/123, 1.6 %), and migraine (1, 0.8 %). Of those with a seizure, 73/87 (83.9 %) were unprovoked and 14/87 (16.1 %) were provoked. The average wait time to be seen as a new patient by an epileptologist was significantly shorter with the establishment of this clinic compared to the year prior (17 days versus 53 days, p value < 0.001). The majority of patients had an EEG prior to or after the visit (121/123, 98.4 %), of which 24/121 (19.8 %) had interictal epileptiform activity. Findings relevant to the patient's cause of epilepsy were found in 26/108 (24.1 %) of patients who underwent an MRI or CT scan of the head. There were 40/123 (32.5 %) patients prescribed an anti-seizure medication (ASM) prior to the first office visit and 65/123 (52.8 %) patients prescribed an ASM within the first three office visits. CONCLUSION: A first seizure evaluation clinic in an urban setting is an achievable and efficient way to evaluate patients with paroxysmal events concerning for seizure in a timely manner. Most patients in this clinic were diagnosed with epileptic seizures. Timely ancillary testing with head imaging and EEG can help contribute to the diagnosis of epilepsy and guide treatment.
ABSTRACT
Neuromelanin-containing dopaminergic neurons in the substantia nigra pars compacta (SNpc) are the most vulnerable neurons in Parkinson's disease (PD). Recent work suggests that the accumulation of oxidized dopamine and neuromelanin mediate the convergence of mitochondrial and lysosomal dysfunction in patient-derived neurons. In addition, the expression of human tyrosinase in mouse SNpc led to the formation of neuromelanin resulting in the degeneration of nigral dopaminergic neurons, further highlighting the importance of neuromelanin in PD. The potential role of neuromelanin in PD pathogenesis has been supported by epidemiological observations, whereby individuals with lighter pigmentation or cutaneous malignant melanoma exhibit higher incidence of PD. Because neuromelanin and melanin share many functional characteristics and overlapping biosynthetic pathways, it has been postulated that genes involved in skin pigmentation and melanin formation may play a role in the susceptibility of vulnerable midbrain dopaminergic neurons to neurodegeneration. Here, we highlight potential mechanisms that may explain the link between skin pigmentation and PD, focusing on the role of skin pigmentation genes in the pathogenesis of PD. We also discuss the importance of genetic ancestry in assessing the contribution of pigmentation-related genes to risk of PD. © 2022 International Parkinson and Movement Disorder Society.