Biomedical subjects

Pauline Dodet

Publications and source records attributed to Pauline Dodet.

2 recordsLinked to original sources

PubMed2025

Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links.

OBJECTIVE: To explore potential genetic and/or causal associations between Post-Traumatic Stress Disorder and neurodegeneration-related isolated/idiopathic rapid-eye-movement sleep behavior disorder. METHODS: We conducted polygenic risk score, genetic correlation, and Mendelian randomization analyses using the latest genome-wide association studies summary statistics and individual genotyping data. Next, a blinded observer examined dopamine transporter imaging binding status-a marker of neurodegeneration-in patients with isolated/idiopathic rapid-eye movement sleep behavior disorder, with (N = 6) and without Post-Traumatic Stress Disorder (N = 32). RESULTS: Polygenic risk scores for Post-Traumatic Stress Disorder were associated with isolated/idiopathic rapid-eye-movement sleep behavior disorder, with each standard deviation increase linked to 14.7% higher odds (odds ratio = 1.15, 95% confidence interval: 1.04 to 1.26, p = 0.005). However, genetic correlation was weak, and Mendelian randomization did not support a potential causal relationship. The proportion of individuals with abnormal dopamine transporter imaging binding status was significantly higher in the Post-Traumatic Stress Disorder group compared to those without the disorder (p=0.01, X2 = 6.62). INTERPRETATION: Polygenic risk scores analysis identified an association between Post-Traumatic Stress Disorder and neurodegeneration-related isolated/idiopathic rapid-eye-movement sleep behavior disorder, consistent with the result from the small exploratory substudy. The lack of strong genetic correlation or causation may reflect limited sample size. Further research with larger and more diverse cohorts is crucial to clarify the genetic, biological and physiological mechanisms underlying this association.

Journal Article↗

PubMed2025

Familial and sporadic non-rapid eye movement parasomnia in adults: clinical and sleep differences.

STUDY OBJECTIVES: The heritable trait of non-rapid eye movement (NREM) parasomnias is well known, but differences between sporadic and familial phenotypes have not been studied. The aim of our study was to evaluate, in a clinical series of adults with NREM parasomnias, clinical and sleep differences between familial versus sporadic forms, and between childhood versus adolescent versus adult-onset forms. METHODS: We prospectively collected clinical features, family history, questionnaires (Epworth Sleepiness Score and Paris Arousal Disorders Severity Scale (PADSS)), and video-polysomnography measures from patients with NREM parasomnias confirmed by video-polysomnography, admitted over a 12-year period. Familial NREM parasomnia was defined as having at least one relative of the index case with NREM parasomnia. RESULTS: Of the 625 consecutive adults with NREM parasomnias, 50% had a family history of NREM parasomnia (most commonly parents, followed by siblings, then children). Compared to those with sporadic NREM parasomnias, participants with familial NREM parasomnias had an earlier age of onset and greater severity of NREM parasomnias (according to the PADSS). They were more likely to report sleepwalking, sleep terrors, and a combination of parasomniac manifestations (but no more confusional arousals or sleep-related eating disorders), and were less likely to report sexsomnia. In contrast, monthly episode frequency, sleepiness score, sleep structure, and EEG and behavioral markers of NREM parasomnias did not differ between groups. CONCLUSIONS: Familial NREM parasomnias have a typical phenotype with an earlier age of onset and a more severe clinical course. This phenotyping may guide medical care and future genetic studies.

Humans↗