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PurposeTo investigate brain functional correlates of mild cognitive impairment (MCI) in idiopathic REM sleep behavior disorder (iRBD).MethodsThirty-nine consecutive iRBD patients, 17 with (RBD-MCI, 73.6±6.5 years), and 22 without (RBD-NC, 69.6±6.1 years) MCI underwent neuropsychological assessment, 18F-FDG-PET, and 123I-FP-CIT-SPECT as a marker of nigro-striatal dopaminergic function. Forty-two healthy subjects (69.6±8.5 years) were used as control for 18F-FDG-PET analysis. Brain metabolism was compared between the three groups by univariate analysis of variance. Post hoc comparison between RBD-MCI and RBD-NC was performed to investigate the presence of an MCI-related volume of interest (MCI-VOI). Brain functional connectivity was explored by interregional correlation analysis (IRCA), using the whole-brain normalized MCI-VOI uptake as the independent variable. Moreover, the MCI-VOI uptake was correlated with 123I-FP-CIT-SPECT specific-to-non displaceable binding ratios (SBR) and neuropsychological variables. Finally, the MCI-VOI white matter structural connectivity was analyzed by using a MRI-derived human atlas.ResultsThe MCI-VOI was characterized by a relative hypometabolism involving precuneus and cuneus (height threshold p<0.0001). IRCA (height threshold p<0.0001) revealed a brain functional network involving regions in frontal, temporal, parietal, and occipital lobes, thalamus, caudate, and red nuclei in iRBD patients. In controls, the network was smaller and involved temporal, occipital, cingulate cortex, and cerebellum. Moreover, MCI-VOI metabolism was correlated with verbal memory (p=0.01), executive functions (p=0.0001), and nigro-putaminal SBR (p=0.005). Finally, MCI-VOI was involved in a white matter network including cingulate fasciculus and corpus callosum.ConclusionOur data suggest that cuneus/precuneus is a hub of a large functional network subserving cognitive function in iRBD.

•We evaluated iron deposition in N1 in HC and patients with early PD (ePD) and iRBD.•N1 aspect was pathological in T2*-w images in 45% of iRBD patients and in most ePD.•ePD N1 χ was higher than iRBD and HC χ but had no correlation with disease duration.•N1 χ in iRBD was similar to HC but increased with disease duration.•N1 χ may be a presymptomatic biomarker for neurodegeneration in prodromal PD. Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is a prodromal stage of α-synucleinopathies, such as Parkinson's disease (PD), which are characterized by the loss of dopaminergic neurons in substantia nigra, associated with abnormal iron load. The assessment of presymptomatic biomarkers predicting the onset of neurodegenerative disorders is critical for monitoring early signs, screening patients for neuroprotective clinical trials and understanding the causal relationship between iron accumulation processes and disease development. Here, we used Quantitative Susceptibility Mapping (QSM) and 7T MRI to quantify iron deposition in Nigrosome 1 (N1) in early PD (ePD) patients, iRBD patients and healthy controls and investigated group differences and correlation with disease progression. We evaluated the radiological appearance of N1 and analyzed its iron content in 35 ePD, 30 iRBD patients and 14 healthy controls via T2*-weighted sequences and susceptibility (χ) maps. N1 regions of interest (ROIs) were manually drawn on control subjects and warped onto a study-specific template to obtain probabilistic N1 ROIs. For each subject the N1 with the highest mean χ was considered for statistical analysis. The appearance of N1 was rated pathological in 45% of iRBD patients. ePD patients showed increased N1 χ compared to iRBD patients and HC but no correlation with disease duration, indicating that iron load remains stable during the early stages of disease progression. Although no difference was reported in iron content between iRBD and HC, N1 χ in the iRBD group increases as the disease evolves. QSM can reveal temporal changes in N1 iron content and its quantification may represent a valuable presymptomatic biomarker to assess neurodegeneration in the prodromal stages of PD. [Display omitted] .

•Vestibular system processes sensory inputs key to posture, gaze, and spatial memory.•Vestibular processing areas are well-mapped, but timing integration remains unclear.•Early vestibular processing involves parallel pathways, not a single primary cortex.•Dorsal and ventral streams aid vestibulo-motor integration and retention over time.•Vestibular system complexity links spatio-temporal dynamics to body awareness. Numerous functions rely on the activation of the vestibular system, resulting in widespread activation of cortical brain regions. However, although the topographical organization of vestibular processing is relatively well understood, the temporal dynamics of this information processing remain insufficiently explored. In this study, we conducted an in-depth analysis of intracerebral recordings from 107 patients (123 implanted hemispheres) to investigate the cortical response to acoustic and sound-induced vestibular stimuli (SVS), thus unveiling the spatiotemporal dynamics of vestibular processing. Our findings revealed the existence of distinct early components (phasic peak, 20–40 ms) localized in Heschl's area, planum temporale, retroinsula, posterior insular cortex, PFcm, parietal operculum, and structures above the Sylvian fissure. Moreover, we identified later, tonic components (peaking at 50–80 ms) characterized by an extended duration, returning to baseline between 200 and 300 ms. Remarkably, these latter components exclusively involved the perisylvian cortices. The findings demonstrated that the early stages of human otolithic vestibular information processing involve both parallel and hierarchical pathways distributed across the perisylvian and peri‑Rolandic regions, rather than being restricted to a single primary cortical area. Furthermore, two distinct streams reminiscent of the dorsal/ventral dichotomy with specific spatio-temporal characteristics were identified. Collectively, our study uncovers a complex and interconnected cortical network that underlies vestibular processing, shedding light on the temporal dynamics of this essential sensory system. These findings pave the way for a deeper understanding of the functional organization of the vestibular system and its implications for sensory perception and motor control. The vestibular system plays a crucial role in daily life by responding to various sensory inputs. We observed a complex and interconnected cortical network shedding light on its temporal dynamics. The results revealed that vestibular processing involves parallel and hierarchical pathways rather than a single primary cortex and a dorsal/ventral stream dichotomy was identified. [Display omitted]

In this datanote we present data from 31 iRBD (idiopathic Rapid eye movement (REM) sleep Behaviour Disorder) patients followed throughout three years to assess their eventual phenoconversion to Parkinson’s disease and other established neurodegenerative conditions. iRBD is a prodromal condition of neurological pathologies such as Parkinson’s disease. We evaluated transcription factor mRNA levels in CD4+ T cells as predictive biomarkers of phenoconversion in iRBD, showing that among the transcription factors mRNA levels analysed, STAT1, GATA3 and FOXP3 mRNA levels may be used to predict phenoconversion. In particular, we found that CD4+ T cells from converters had higher STAT1, and lower GATA3 and FOXP3 mRNA levels. According to ROC curve analysis STAT1 levels provided a good discrimination, GATA3 levels an excellent discrimination of future converters and not-converters, while discrimination provided by FOXP3 levels was acceptable.

Background and purpose The pathogenesis of idiopathic normal pressure hydrocephalus (iNPH) remains controversial. Limited studies have indicated a high prevalence of obstructive sleep apnoea (OSA) amongst iNPH patients. The aim was to investigate the clinical correlates of OSA in iNPH patients. Methods In this cross‐sectional observational study, consecutive iNPH patients were prospectively enrolled. Evaluations included the iNPH Rating Scale, the Movement Disorder Society Unified Parkinson's Disease Rating Scale part III, the time and number of steps to walk 10 m, the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index, a complete neuropsychological evaluation, 3‐T brain MRI, full‐night video‐polysomnography, tap test and cerebrospinal fluid (CSF) neurodegeneration biomarkers. Results Fifty‐one patients were screened, of whom 38 met the inclusion criteria. Amongst the recruited patients, 19/38 (50%) exhibited OSA, with 12/19 (63.2%) presenting moderate to severe disorder. OSA+ iNPH patients required more time (p = 0.02) and more steps (p = 0.04) to complete the 10‐m walking test, had lower scores on the gait subitem of the iNPH Rating Scale (p = 0.04) and demonstrated poorer performance on specific neuropsychological tests (Rey Auditory Verbal Learning Test immediate recall, p = 0.03, and Rey–Osterrieth Complex Figure, p = 0.01). Additionally, OSA+ iNPH patients had higher levels of total tau (p = 0.02) and phospho‐tau (p = 0.03) in their CSF but no statistically significant differences in beta‐amyloid (1–42) levels compared to OSA− iNPH patients. Conclusion Obstructive sleep apnoea is highly prevalent in iNPH patients, particularly at moderate to severe levels. OSA is associated with worse motor and cognitive performance in iNPH. The CSF neurodegeneration biomarker profile observed in OSA+ iNPH patients may reflect OSA‐induced impairment of cerebral fluid dynamics.

Study Objectives: Narcolepsy type 1 (NT1) is a chronic neurological disorder typically arising during adolescence and young adulthood. Recent studies demonstrated that NT1 presents with age-specific features, especially in children. With this study we aimed to describe and to compare the clinical pictures of NT1 in different age groups. Methods: In this cross-sectional, multicenter study, 106 untreated patients with NT1 enrolled at the time of diagnosis underwent clinical evaluation, a semistructured interview (including the Epworth Sleepiness Scale), nocturnal video-polysomnography, and the Multiple Sleep Latency Test. Patients were enrolled in order to establish 5 age-balanced groups (childhood, adolescence, adulthood, middle age, and senior). Results: The Epworth Sleepiness Scale score showed a significant increase with age, while self-reported diurnal total sleep time was lower in older and young adults, with the latter also complaining of automatic behaviors in more than 90% of patients. Children reported the cataplexy attacks to be more frequent (> 1/d in 95% of patients). “Recalling an emotional event,” “meeting someone unexpectedly,” “stress,” and “anger” were more frequently reported in adult and older adult patients as possible triggers of cataplexy. Neurophysiological data showed a higher number of sleep-onset rapid eye movement periods on the Multiple Sleep Latency Test in adolescent compared to senior patients and an age-progressive decline in sleep efficiency. Conclusions: Daytime sleepiness, cataplexy features and triggers, and nocturnal sleep structure showed age-related difference in patients with NT1; this variability may contribute to diagnostic delay and misdiagnosis. Citation: Lividini A, Pizza F, Filardi M, et al. Narcolepsy type 1 features across the life span: age impact on clinical and polysomnographic phenotype. J Clin Sleep Med . 2021;17(7):1363–1370.

Anterior opercular syndrome (a.k.a. Foix–Chavany–Marie syndrome) is a rare neurological condition, described as a paralysis of the mouth and tongue usually caused by a bilateral lesion of the frontal opercular area. The patient presents with speaking, chewing, and swallowing impairment, but autonomic and emotional functions—like smiling and yawning—are typically preserved. We present our patient’s clinical data after critical analysis, together with a brief literature review about anterior opercular syndrome caused by unilateral opercular lesions. To our knowledge, less than 20 cases of anterior opercular syndrome caused by unilateral lesions are described in the literature. In some patients, a contralateral lesion can be detected on brain imaging in regions different from the anterior opercular cortex. This syndrome can rarely occur as a consequence of unilateral opercular cortex damage. The possible role of contralateral lesions located in neuronal pathways functionally related to the anterior operculum requires further investigation.

Patients with idiopathic REM sleep behavior disorder (iRBD) are at very high risk of developing neurodegenerative synucleinopathies, which are disorders with prominent autonomic dysfunction. Several studies have documented autonomic dysfunction in iRBD, but large-scale assessment of autonomic symptoms has never been systematically performed. Patients with polysomnography-confirmed iRBD (318 cases) and controls (137 healthy volunteers and 181 sleep center controls with sleep diagnoses other than RBD) were recruited from 13 neurological centers in 10 countries from 2008 to 2011. A validated scale to study the disorders of the autonomic nervous system in Parkinson's disease (PD) patients, the SCOPA-AUT, was administered to all the patients and controls. The SCOPA-AUT consists of 25 items assessing the following domains: gastrointestinal, urinary, cardiovascular, thermoregulatory, pupillomotor, and sexual dysfunction. Our results show that compared to control subjects with a similar overall age and sex distribution, patients with iRBD experience significantly more problems with gastrointestinal, urinary, and cardiovascular functioning. The most prominent differences in severity of autonomic symptoms between our iRBD patients and controls emerged in the gastrointestinal domain. Interestingly, it has been reported that an altered gastrointestinal motility can predate the motor phase of PD. The cardiovascular domain SCOPA-AUT score in our study in iRBD patients was intermediate with respect to the scores reported in PD patients by other authors. Our findings underline the importance of collecting data on autonomic symptoms in iRBD. These data may be used in prospective studies for evaluating the risk of developing neurodegenerative disorders.

The aim of this study was to develop and validate a questionnaire designed to measure the impact of sleep impairment on emotional distress in patients with various sleep disorders. Five experts created an item data-bank pertaining to sleep-related psychological symptoms and somatic perceptions. Fifty patients in two focus groups examined each item for: a) word clarity (indicating any ambiguity of interpretation) and b) appropriateness for the target population. This process permitted to identify 36 appropriate items. Classical Test Theory and Rasch Analysis were used to further refine the questionnaire, yielding the final 17-item set. Concurrent validation of the new scale was tested with the Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, and the Anxiety and Depression questionnaires. Starting from the initial item data-bank, a 17-item questionnaire, the Maugeri Sleep Quality and Distress Inventory (MaSQuDI-17), was produced. Parallel Analysis on the MaSQuDI-17 confirmed the presence of a single dimension; exploratory factor analysis showed salient loading for each item, explaining 58.7% of total variance. Item-remainder correlation ranged from 0.72 to 0.39 and Cronbach alpha was 0.896. Rasch analysis revealed satisfactory psychometric properties of the new scale: the rating structure performed according to expectations, model fit was good and no item dependencies emerged. The scale presented good convergent validity and scores significantly distinguished healthy subjects from OSAS or Insomnia or BSD (p < 0.001). MaSQuDI -17 shows good psychometric qualities, and can be used to assess the impact of sleep disorders such as Insomnia, OSAS, Central Hypersomnia and BSD on emotional stress.

Kleine-Levin syndrome is a rare neurologic disorder of unknown etiopathogenesis, characterized by abrupt onset and remission of attacks of hypersomnia and cognitive dysfunctions. Psychiatric symptoms are frequently present, ranging from disinhibited sexual behavior and eating disorders to hallucinations, anxiety, mood alterations, and derealization. A vast range of attack-related dysautonomic signs and symptoms are reported but remain poorly described. We describe a patient with Kleine-Levin syndrome with sleep attacks dominated by marked dysautonomic features. We briefly review similar clinical cases and suggest that the hypothalamus may play a central role in the genesis of autonomic dysfunction in Kleine-Levin syndrome. Citation: Fiamingo G, Esposto R, Dal Fabbro B, Terzaghi M. Kleine-Levin syndrome:report of a case with marked dysautonomic features. J Clin Sleep Med . 2022;18(9):2313–2316.