Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease.

OBJECTIVE: Anti-IgLON5 disease is a recently described neurological disease that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent and important but have not been characterized and are under-reported. Here we describe the frequency and types of movement disorders in a series of consecutive patients with this disease. METHODS: In this retrospective, observational study, the presence and phenomenology of movement disorders were assessed with a standardized clinical questionnaire. Available videos were centrally reviewed by three experts in movement disorders. RESULTS: Seventy two patients were included. In 41 (57%) the main reason for initial consultation was difficulty walking along with one or several concurrent movement disorders. At the time of anti-IgLON5 diagnosis, 63 (87%) patients had at least one movement disorder with a median of three per patient. The most frequent abnormal movements were gait and balance disturbances (52 patients, 72%), chorea (24, 33%), bradykinesia (20, 28%), dystonia (19, 26%), abnormal body postures or rigidity (18, 25%), and tremor (15, 21%). Other hyperkinetic movements (myoclonus, akathisia, myorhythmia, myokymia, or abdominal dyskinesias) occurred in 26 (36%) patients. The craniofacial region was one of the most frequently affected by multiple concurrent movement disorders (23 patients, 32%) including dystonia (13), myorhythmia (6), chorea (4) or myokymia (4). Considering any body region, the most frequent combination of multiple movement disorders consisted of gait instability or ataxia associated with craniofacial dyskinesias or generalized chorea observed in 31(43%) of patients. In addition to abnormal movements, 87% of patients had sleep alterations, 74% bulbar dysfunction, and 53% cognitive impairment. Fifty-five (76%) patients were treated with immunotherapy, resulting in important and sustained improvement of the movement disorders in only seven (13%) cases. CONCLUSIONS: Movement disorders are a frequent and leading cause of initial neurological consultation in patients with anti-IgLON5 disease. Although multiple types of abnormal movements can occur, the most prevalent are disorders of gait, generalized chorea, and dystonia and other dyskinesias that frequently affect craniofacial muscles. Overall, anti-IgLON5 disease should be considered in patients with multiple movement disorders, particularly if they occur in association with sleep alterations, bulbar dysfunction, or cognitive impairment.

The effects of the COVID-19 pandemic on patients with narcolepsy.

STUDY OBJECTIVES: To the best of our knowledge, there has not as yet been any study on the effects of the COVID-19 pandemic on patients with narcolepsy, in particular, in relation to its impact on sleep schedules, symptoms, the need for medication, work, income, and quality of life. This study therefore aimed to explore these factors and their possible influence on sleep, circadian timing, and narcolepsy symptoms during the pandemic. METHODS: Patients with narcolepsy who had been in quarantine for at least 3 months completed a 36-question online survey. Questions targeted the conditions of the quarantine, sleep-related behaviors, and factors known to affect sleep and circadian rhythms (work status, income, appetite, narcolepsy symptoms, and medication), as well as the quality of life during the quarantine period. RESULTS: The routines of the participants had been altered by quarantine, with changes in their place of work, and an increase in narcolepsy symptoms, such as cataplexy, sleep paralysis, hallucinations, nocturnal awakenings, and sleepiness. Sleep and wake times changed, resulting in altered sleep patterns in most of the sample. No association between changes in the place of work and narcolepsy symptoms was found. Regarding medication, the participants used fewer antidepressant pills but took more stimulants. Appetite was increased and self-reported quality of life decreased during the period. CONCLUSIONS: During the quarantine, the patients with narcolepsy reported changes in their bedtime and waking-up schedules, suggesting a tendency to circadian misalignment. In Brazil, the effects of the COVID-19 outbreak have gone beyond the direct action of the virus because of the collateral damage it has caused in respect to unemployment, financial hardship, and a reduction in quality of life. These impacts have been amplified in Brazil because of the level of social inequality found in the country, and they have particularly affected vulnerable patients with rare diseases, such as the narcolepsy population.

Sleep Disorders in Hereditary Ataxias.

PURPOSE OF REVIEW: In this review, we aim to describe the main sleep disorders observed in patients with different forms of hereditary ataxias and discuss the main pathophysiological mechanisms. RECENT FINDINGS: Several pathological studies have demonstrated that the degenerative process in patients with hereditary ataxias may involve not only the cerebellum, but also other areas of the nervous system, and explain noncerebellar symptoms, such as sleep disorders. Hereditary ataxias are neurodegenerative disorders with heterogeneous genetic and clinical presentation. This group of diseases usually affects other areas of the nervous system, besides the cerebellum, and noncerebellar signs and symptoms may occur, such as sleep disorders. The main sleep disorders related to hereditary ataxias include REM sleep behavior disorder, insomnia, excessive daytime sleepiness, obstructive and central sleep apnea, periodic leg movement in sleep, and restless legs syndrome.