Publications by authors named "Alex Desautels"

Several studies have explored how factors that deepen sleep (e.g., sleep deprivation) and factors that fragment sleep (e.

View Article and Find Full Text PDF

Objective: The lack of current Canadian practice guidelines for the management of insomnia poses a challenge for healthcare providers (HCP) in selecting the appropriate treatment options. This study aimed to establish expert consensus recommendations for the management of chronic insomnia in Canada.

Composition Of The Committee: Sixteen multidisciplinary experts in sleep medicine and insomnia across Canada developed consensus recommendations based on their knowledge of the literature and their practical experience.

View Article and Find Full Text PDF

Background: Poststroke aphasia (PSA) recovery shows high variability across individuals and at different time points. Although diffusion biomarkers from the ventral and dorsal streams have demonstrated strong predictive power for language outcomes, it is still unclear how these biomarkers relate to the various stages of PSA recovery. In this study, we aim to compare diffusion metrics and language measures as predictors of language recovery in a longitudinal cohort of participants with PSA.

View Article and Find Full Text PDF

This study aimed to progress the understanding of idiopathic hypersomnia (IH) by assessing the moderating influence of individual characteristics, such as age, sex, and body mass index (BMI) on sleep architecture. In this retrospective study, 76 IH participants (38.1 ± 11.

View Article and Find Full Text PDF

Patients with idiopathic hypersomnia frequently report having unrefreshing naps. However, whether they have abnormal sleep architecture during naps that may explain their unrefreshing aspect is unknown. We compared sleep architecture during short daytime naps in patients with idiopathic hypersomnia reporting unrefreshing and refreshing naps.

View Article and Find Full Text PDF
Article Synopsis
  • Restless legs syndrome (RLS) affects nearly 10% of older adults, but many face delays in diagnosis and treatment.
  • A large-scale genetic study identified 164 risk loci for RLS, enhancing our understanding of its genetic basis and showing similarities in genetic predispositions between sexes.
  • Findings suggest potential drug targets, a relationship between RLS and diabetes, and highlight the effectiveness of machine learning in predicting RLS risk using genetic and other data.
View Article and Find Full Text PDF

White matter is often severely affected after human ischaemic stroke. While animal studies have suggested that various factors may contribute to white matter structural damage after ischaemic stroke, the characterization of damaging processes to the affected hemisphere after human stroke remains poorly understood. Thus, the present study aims to thoroughly describe the longitudinal pattern of evolution of diffusion magnetic resonance imaging metrics in different parts of the ipsilesional white matter after stroke.

View Article and Find Full Text PDF
Article Synopsis
  • A study investigated the relationship between the human leukocyte antigen (HLA) locus and synucleinopathies, specifically Lewy body dementia (LBD) and isolated REM sleep behavior disorder (iRBD), which are linked to neuroinflammation.
  • It was found that the HLA-DRB1*11:01 allele was significantly associated with iRBD, while several other alleles showed varying associations.
  • The results imply that the HLA locus may have distinct roles depending on the type of synucleinopathy being examined.
View Article and Find Full Text PDF

Study Objectives: Unrefreshing naps are supportive clinical features of idiopathic hypersomnia (IH) and are reported by more than 50% of IH patients. They are, however, not mandatory for the diagnosis, and their pathophysiological nature is not understood. This study aimed at verifying whether IH patients with and without unrefreshing naps constitute two subtypes of IH based on their demographic/clinical characteristics, and sleep architecture.

View Article and Find Full Text PDF
Article Synopsis
  • * The study analyzed over 6,000 NT1 cases and identified new genetic associations (e.g., CD207, NAB1) tied to immune response, particularly involving T cells.
  • * Results suggest that genetic factors in NT1 also relate to other autoimmune diseases, indicating a shared immune mechanism influenced by environmental factors like infections and vaccinations.
View Article and Find Full Text PDF
Article Synopsis
  • NPC1 is a gene that encodes a protein crucial for cholesterol transport in lysosomes, and mutations in this gene can cause Niemann-Pick disease type C, a lysosomal storage disorder.
  • This study investigated the potential link between NPC1 variants and several alpha synucleinopathies, including Parkinson's disease, dementia with Lewy bodies, and rapid eye movement-sleep behavior disorder, using data from multiple cohorts of individuals of European descent.
  • The results showed that neither common nor rare NPC1 variants were associated with these neurodegenerative disorders, indicating that NPC1 mutations likely do not significantly impact the development of alpha synucleinopathies.
View Article and Find Full Text PDF
Article Synopsis
  • - The study investigates the role of the human leukocyte antigen (HLA) locus in isolated REM sleep behavior disorder (iRBD), Lewy body dementia (LBD), and Parkinson's disease (PD), highlighting the genetic and neuroinflammatory links between these synucleinopathies.
  • - Researchers performed genetic analyses using data from over 1,000 iRBD patients and 2,600 LBD patients to identify associations between specific HLA alleles and disease susceptibility, finding strong links for certain alleles in iRBD but not in LBD.
  • - The results indicate a unique association of the HLA allele *11:01 with iRBD, suggesting that the genetic factors may differ between these
View Article and Find Full Text PDF
Article Synopsis
  • * A genome-wide association study identified five genetic risk loci for RBD near specific genes (SNCA, GBA, TMEM175, INPP5F, and SCARB2), suggesting a genetic basis for the disorder.
  • * Further analysis indicates that certain genes, like SNCA-AS1, show different expression levels in various brain regions affected by RBD, paving the way for recognizing RBD as a distinct subtype of alpha-synucleinopathy for potential early interventions.
View Article and Find Full Text PDF

Diffusion imaging (DWI) is considered an optimal technique to detect hyperacute cerebral ischemia and has thus enriched the clinical management of patients with suspected stroke. Researchers have taken this technique beyond with Diffusion Tensor Imaging (DTI)-extracted measures, which have been proposed as biomarkers of stroke progression. A large body of literature report on the correlates between pathophysiological events, such as cytotoxic and vasogenic edema, and diffusion changes in the brain.

View Article and Find Full Text PDF

Background: Far from being benign, somnambulistic episodes can be frequent and/or severe and potentially injurious. Episodes may also be accompanied by sleep mentation with variable degrees of retrograde amnesia. The present study investigated how somnambulistic episodes unfold from childhood through adulthood, a topic that remains understudied.

View Article and Find Full Text PDF

Sleepwalking is a common non-rapid eye movement (NREM) parasomnia and a significant cause of sleep-related injuries. While evidence suggest that the occurrence of this condition is partly determined by genetic factors, its pattern of inheritance remains unclear, and few molecular studies have been conducted. One promising candidate is the adenosine deaminase (ADA) gene.

View Article and Find Full Text PDF

Background: PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA. GBA mutations are associated with idiopathic/isolated REM sleep behavior disorder (iRBD), a prodromal stage of synucleinopathy.

Objective: To examine the role of PSAP mutations in iRBD.

View Article and Find Full Text PDF

Sleepwalking has been conceptualized as deregulation between slow-wave sleep and arousal, with its occurrence in predisposed patients increasing following sleep deprivation. Recent evidence showed autonomic changes before arousals and somnambulistic episodes, suggesting that autonomic dysfunctions may contribute to the pathophysiology of sleepwalking. We investigated cardiac autonomic modulation during slow-wave sleep in sleepwalkers and controls during normal and recovery sleep following sleep deprivation.

View Article and Find Full Text PDF

Objective: To examine the role of genes identified through genome-wide association studies (GWASs) of Parkinson disease (PD) in the risk of isolated REM sleep behavior disorder (iRBD).

Methods: We fully sequenced 25 genes previously identified in GWASs of PD in a total of 1,039 patients with iRBD and 1,852 controls. The role of rare heterozygous variants in these genes was examined with burden tests.

View Article and Find Full Text PDF

Background: There is only partial overlap in the genetic background of isolated rapid-eye-movement sleep behavior disorder (iRBD) and Parkinson's disease (PD).

Objective: To examine the role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD.

Methods: Ten genes, comprising the recessive genes PRKN, DJ-1 (PARK7), PINK1, VPS13C, ATP13A2, FBXO7, and PLA2G6 and the dominant genes LRRK2, GCH1, and VPS35, were fully sequenced in 1039 iRBD patients and 1852 controls of European ancestry, followed by association tests.

View Article and Find Full Text PDF

The present study aims to assess the relationship between quantitative measures of connected speech production and performance in confrontation naming in early post-stroke aphasia (8-14 days post-stroke). We collected connected speech samples elicited by a picture description task and administered a confrontation naming task to 20 individuals with early post-stroke aphasia and 20 healthy controls. Transcriptions were made in compliance with the CHAT format guidelines.

View Article and Find Full Text PDF

Objectives: Sleepwalkers have consistently shown N3 sleep discontinuity, especially after sleep deprivation. In healthy subjects, sleep spindles activity has been positively correlated to sleep stability. We aimed to compare spindles density during N3 sleep between sleepwalkers and healthy controls.

View Article and Find Full Text PDF

Restless legs syndrome is a relatively common neurological disorder in adults. In childhood, however, its prevalence and genetic contribution are still largely unknown. The objectives of this study were to assess the prevalence of restless legs syndrome (RLS) during childhood and adolescence in a large population-based cohort and evaluate the degree of association with parental history.

View Article and Find Full Text PDF

Objective: To study the role of variants in the risk for isolated REM sleep behavior disorder (iRBD) and conversion to overt neurodegeneration.

Methods: A total of 4,147 individuals were included: 1,061 patients with iRBD and 3,086 controls. was fully sequenced using molecular inversion probes and Sanger sequencing.

View Article and Find Full Text PDF
Article Synopsis
  • Mutations in the SMPD1 gene have been linked to Parkinson's disease and dementia with Lewy bodies.
  • The study analyzed SMPD1 variants in 959 patients with isolated REM sleep behavior disorder (iRBD) compared to 1287 control subjects.
  • Findings show no significant association between SMPD1 variants and iRBD, suggesting SMPD1 is unlikely to be a key factor in this disorder.
View Article and Find Full Text PDF