Clinical and Translational Neuroscience: Time for a Change: “What’s Past Is Prologue”

The first issue of Clinical and Translational Neuroscience (CTN) (ISSN: 2514-183X) appeared in 2017 [...

Sleepwalking in Parkinson's disease: a questionnaire-based survey

Sleepwalking (SW) corresponds to a complex sleep-associated behavior that includes locomotion, mental confusion, and amnesia. SW is present in about 10% of children and 2-3% of adults. In a retrospective series of 165 patients with Parkinson's disease (PD), we found adult-onset ("de novo”) SW "de novo” in six (4%) of them. The aim of this study was to assess prospectively and systematically the frequency and characteristics of SW in PD patients. A questionnaire including items on sleep quality, sleep disorders, and specifically also SW and REM sleep behavior disorder (RBD), PD characteristics and severity, was sent to the members of the national PD patients organization in Switzerland. In the study, 36/417 patients (9%) reported SW, of which 22 (5%) had adult-onset SW. Patients with SW had significantly longer disease duration (p=0.035), they reported more often hallucinations (p=0.004) and nightmares (p=0.003), and they had higher scores, suggestive for RBD in a validated questionnaire (p=0.001). Patients with SW were also sleepier (trend to a higher Epworth Sleepiness Scale score, p=0.055). Our data suggest that SW in PD patients is (1) more common than in the general population, and (2) is associated with RBD, nightmares, and hallucinations. Further studies including polysomnographic recordings are needed to confirm the results of this questionnaire-based analysis, to understand the relationship between SW and other nighttime wandering behaviors in PD, and to clarify the underlying mechanism

CSF prostaglandin D synthase is reduced in excessive daytime sleepiness

Lipocalin-type prostaglandin D synthase (L-PGDS) is a brain enzyme, which produces prostaglandin D2, a substance with endogenous somnogenic effects. Using a standardized protocol for immunonephelometric determination of cerebrospinal fluid (CSF) L-PGDS levels, we show that CSF L-PGDS levels are significantly lower in 34 patients with excessive daytime sleepiness when compared with levels in 22 healthy controls. Thus, L-PGDS may represent the first neurochemical measure of excessive daytime sleepines

LMOD3 gene variant in familial periodic hypersomnolence.

INTRODUCTION Kleine-Levin syndrome (KLS) is a rare and debilitating disorder presenting with periodic hypersomnolence, cognitive, psychiatric and behavioral disturbances. In the absence of biomarkers it can be difficult to diagnose. Rare LMOD3 variants in a family and in seven sporadic cases with KLS have been described. Here we report a patient and her family with an unclassified, familial, periodic central disorder of hypersomnolence (CDH) in whom the presence of a LMOD3 gene variant was assessed. CASE DESCRIPTION The female patient presented since early adulthood with recurrent episodes of hypersomnolence. Over more than 20 years of follow-up the diagnoses of idiopathic hypersomnia, KLS and hypersomnia associated with a psychiatric condition were made. The family history is positive for periodic hypersomnolence and psychiatric conditions. The patient, her symptomatic mother and her asymptomatic sister carried a Proline for Histidine substitution at codon 552 of the LMOD3-gene. This variant was previously reported in two sporadic KLS patients and its frequency in the general population is below 0.02%. DISCUSSION We report the association of periodic hypersomnia with a polymorphism of the LMOD3-gene in a patient with atypical KLS and a positive family history. Further research is needed to assess the pathological and predictive value of LMOD3 variants in KLS

Invasive Candidiasis in Non-Hematological Patients

Candida is one of the most frequent pathogens isolated in bloodstream infections, and is associated with significant morbidity and mortality. In addition to haematological patients, there are several other populations with a substantial risk of developing invasive candidiasis (IC). These include patients undergoing prolonged hospitalisation with the use of broad-spectrum antibiotics, those fitted with intravascular catheters, admitted to both adult and neonate intensive care units (ICU) or gastrointestinal surgery wards and subjects with solid tumours undergoing cytotoxic chemotherapy. As a general rule, every immunocompromised patient might be at risk of Candida infection, including, for example, diabetic patients