Khloe L Kruzette Solijon, Roi O Engkong, Barbra Charina V Cavan, Leslee Y Ong, Yi-Hsuan Chen, Han-I Lin, Chin-Hsien Lin, Gerard Saranza
{"title":"Compound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.","authors":"Khloe L Kruzette Solijon, Roi O Engkong, Barbra Charina V Cavan, Leslee Y Ong, Yi-Hsuan Chen, Han-I Lin, Chin-Hsien Lin, Gerard Saranza","doi":"10.1007/s00702-025-02885-4","DOIUrl":"10.1007/s00702-025-02885-4","url":null,"abstract":"<p><p>Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium. Primary cilia play a crucial role in the normal development and function of many organs, including parts of the brain (cerebellum and brainstem), kidneys, and the retina. This likely explains the multiorgan involvement seen in JS. In this report, we present the first genetically confirmed case of JS in two Filipino adolescent siblings who had early onset ataxia, hepatomegaly, and global developmental delay. A cranial CT scan revealed the Molar Tooth Sign (MTS). Whole Exome Sequencing (WES), performed via buccal swab, showed biallelic pathogenic variants at NM_153704.6:c.2086 C > T (NP_714915.3:p.Leu696Phe) and NM_153704.6:c.431del (NP_714915.3:p.Leu144CysfsTer19) in TMEM67, which are associated with Joubert Syndrome 6 (OMIM:610688) in a compound heterozygous state. The prevalence of NM_153704.6:c.2086 C > T (NP_714915.3:p.Leu696Phe) in TMEM67 variant is very rare (< 0.001%), and the NM_153704.6:c.431del (NP_714915.3:p.Leu144CysfsTer19) has not been recorded. This case contributes valuable information to the expanding knowledge of JS and its related disorders.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":"655-661"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrea Cattaneo, Julia Messinger, Kevin Lamllari, Helmut Heinsen, Michael K Schuhmann, Christoph Wipplinger, Vera Nickl, Mario Löhr, Ekkehard Kunze, Christian Stetter, Thomas Linsenmann, Michael Bohnert, Ralf-Ingo Ernestus, Johann Zwirner, Benjamin Ondruschka, Camelia-Maria Monoranu, Simone Bohnert
{"title":"TMEM119-positive microglial cells in cerebrospinal fluid, a potential new marker for neuroinflammatory response after aneurysmal subarachnoid hemorrhage.","authors":"Andrea Cattaneo, Julia Messinger, Kevin Lamllari, Helmut Heinsen, Michael K Schuhmann, Christoph Wipplinger, Vera Nickl, Mario Löhr, Ekkehard Kunze, Christian Stetter, Thomas Linsenmann, Michael Bohnert, Ralf-Ingo Ernestus, Johann Zwirner, Benjamin Ondruschka, Camelia-Maria Monoranu, Simone Bohnert","doi":"10.1007/s00702-025-02886-3","DOIUrl":"10.1007/s00702-025-02886-3","url":null,"abstract":"<p><p>Aneurysmal subarachnoid hemorrhage (aSAH) is a debilitating condition with significant morbidity and mortality rates. Despite advancements in treatment, understanding the underlying pathophysiology, particularly the inflammatory response, remains crucial for improving patient outcomes. In this study, we investigated the presence of transmembrane protein 119 (TMEM119) of microglial cells in cerebrospinal fluid (CSF) as a potential marker for neuroinflammation following aSAH. CSF samples were collected from aSAH patients, pathological and healthy controls, processed, and analyzed using immunocytochemistry. TMEM119-positive microglial cells were consistently identified in the CSF of aSAH patients, exhibiting amoeboid morphology and intense staining. Importantly, microglial cells were detected as early as the first day post-bleeding, persisting throughout the acute phase in some cases. Analysis of consecutive samples revealed varying trends in microglial cell numbers, with a peak during the initial phase followed by a gradual decline. Our findings suggest that microglia may migrate into the CSF following aSAH, potentially serving as an early predictor of inflammatory-related CNS damage. This study underscores the importance of understanding neuroinflammatory processes in aSAH and opens avenues for further research on the role of microglia in CNS disorders by liquid biopsy.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":"689-698"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Olga Stockmann, Lan Ye, Stephan Greten, David Chemodanow, Florian Wegner, Martin Klietz
{"title":"Impact of diabetes mellitus type two on incidence and progression of Parkinson's disease: a systematic review of longitudinal patient cohorts.","authors":"Olga Stockmann, Lan Ye, Stephan Greten, David Chemodanow, Florian Wegner, Martin Klietz","doi":"10.1007/s00702-025-02882-7","DOIUrl":"10.1007/s00702-025-02882-7","url":null,"abstract":"<p><p>Parkinson's disease (PD) is a chronic neurodegenerative disease of the elderly. Patients suffer from progressive motor and non-motor symptoms. Further, PD patients often present geriatric features like multimorbidity and polypharmacotherapy. A frequent comorbidity of PD patients is diabetes mellitus type two (T2DM). In the last decade growing evidence emerged on the impact of T2DM on PD. Of the present review was to analyze the impact of T2DM on PD incidence and progression in patient cohorts. A systematic review of the literature was performed via PubMed and Google Scholar. Studies on longitudinal PD patient cohorts with at least 10 patients per group were included. The diabetic state of the patient had to be determined. In total, 15 studies were analyzed for this review. According to most of the included studies T2DM increases the risk of developing PD significantly. Disease progression is augmented by T2DM both for motor and cognitive impairments. Some studies also point out a correlation of motor worsening and diabetic status measured by the serum HbA1c level. In relation to biomarkers, PD patients with diabetes have higher neurofilament light chain and Tau level but lower Amyloid beta level. T2DM seems to be a risk factor for the development and progression of PD. PD patients should be screened for T2DM and treatment should be initiated promptly. There is still a lack of knowledge about the molecular mechanisms leading to interactions of these diseases.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":"627-635"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Action impulsivity and attention deficits in patients at an early stage of Huntington disease.","authors":"Sacha Brohée, Stephan Grimaldi, Laure Spieser, Nathalie Baril, Thierry Hasbroucq, Frédérique Fluchere, Jean-Philippe Azulay, Franck Vidal, Marianne Vaugoyeau","doi":"10.1007/s00702-025-02888-1","DOIUrl":"10.1007/s00702-025-02888-1","url":null,"abstract":"<p><p>Huntington's disease (HD) is characterized by a combination of motor, cognitive, and neuropsychiatric impairments. Among them, impulsivity and attention deficits are clinical features usually described in HD, impacting the quality of life of patients and their caregivers. Twenty early-stage HD patients (PHD) and 20 age and gender-matched control participants (CP) performed a \"Simon\" reaction time (RT) task allowing us to explore action impulsivity and attention deficits. Surface EMG recordings aimed at revealing the presence and characterizing the nature of impulsivity in PHD. Correlational analyses between error rates or chronometric data, and clinical or neuropsychological data were examined. (1) Analysis of the accuracy and EMG patterns revealed no difference between PHD and CP, indicating absence of motor impulsivity at the early stage of HD. (2) Chronometric indices revealed a general slowing of information processing in PHD, involving central information processing but sparing the latest stages of motor execution, consistent with performed correlational analysis. (3) Sequential analysis of RT patterns showed a failure to allocate attention appropriately. These indices of attentional deficits nicely correlated with performance in neuropsychological tests exploring attentional processes. (1) Central information processing slows down at the early stage of HD but the latest steps of motor execution are unaffected. (2) In the progression of HD, attentional deficits typically should appear first among dysexecutive problems, without significant action impulsivity.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":"645-654"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chuhao Zhang, Yuan Liu, Ying Gao, Meijuan Li, Yeqing Dong, Xueying Liu, Jie Li
{"title":"The sex-specific relationship of ghrelin and cognition in Chinese han first-episode drug-naive major depressive disorder.","authors":"Chuhao Zhang, Yuan Liu, Ying Gao, Meijuan Li, Yeqing Dong, Xueying Liu, Jie Li","doi":"10.1007/s00702-025-02880-9","DOIUrl":"10.1007/s00702-025-02880-9","url":null,"abstract":"<p><p>In major depressive disorder (MDD), alterations in ghrelin levels and cognitive impairment coexist, yet their association has remained largely elusive. This study aimed to investigate the association between ghrelin levels and cognition in both MDD patients and healthy controls (HCs) while also exploring sex-specific differences in this correlation. A total of 155 Chinese Han subjects, including 90 first-episode drug-naive MDD patients and 65 HCs, were enrolled. Ghrelin levels were measured using ELISA kits, and neurocognitive assessments were conducted using the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). MDD patients exhibited significantly higher ghrelin levels and lower cognitive scores of RBANS compared to HCs. However, there was no significant correlation between ghrelin levels and cognitive function in both MDD patients and HCs. Exploratory analyses revealed sex-specific associations between ghrelin and cognitive function, particularly in MDD patients. Females with MDD showed distinct patterns of association between ghrelin levels and cognitive domains such as attention and language, which were not observed in healthy controls or male MDD patients. The relationship between ghrelin and cognition only existed in MDD patients, not in the HCs, and there was a sex-specific difference in this association. Further research on the mechanism of ghrelin in the cognitive function of MDD should focus on sex differences.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":"699-707"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Monica Grigore, Andrei Gresita, D M Hermann, Thorsten R Doeppner, Victor Gheorman, Daniela Glavan, Aurel Popa-Wagner
{"title":"Regulation of circadian gene activity in fibroblasts from ADHD patients through Rosiglitazone: a pilot study.","authors":"Monica Grigore, Andrei Gresita, D M Hermann, Thorsten R Doeppner, Victor Gheorman, Daniela Glavan, Aurel Popa-Wagner","doi":"10.1007/s00702-025-02883-6","DOIUrl":"10.1007/s00702-025-02883-6","url":null,"abstract":"<p><p>Attention-deficit/hyperactivity disorder (ADHD) is a frequently observed condition, with about 70% of individuals diagnosed with ADHD experiencing irregular sleep-wake patterns. Beyond the primary symptoms of ADHD, there is a significant overlap with sleep-related issues, indicating that disrupted sleep patterns may exacerbate ADHD symptoms. ADHD-related sleep problems can be traced to a delayed circadian rhythm and a later onset of melatonin production. Therefore, normalizing circadian rhythms has been proposed as a potential therapeutic target for psychiatric disorders. Recent animal studies have provided compelling evidence linking peroxisome proliferator-activated receptor gamma (PPARγ), a key regulator of energy metabolism, to the regulation of physiological and behavioral rhythms. In this study, we hypothesized that treating fibroblasts from ADHD patients, which exhibit disturbances in circadian rhythmicity that are replicated in peripheral fibroblasts, with rosiglitazone may restore their circadian rhythmicity to that of the controls. To this end, we used cultures of fibroblasts obtained from skin biopsy explants of ADHD patients and controls and investigated the temporal patterns of clock gene expression over a period of 24 h. We report that the administration of the PPARγ agonist, rosiglitazone significantly realigns the chronobiological patterns of ADHD patient samples and control groups by inducing phase shifts in the expression of the BMAL1, PER3, and CRY1 clock genes. Nevertheless, rosiglitazone showed limited impact on the amplitude and phase of CLOCK1, NPAS2, and PER1. No notable changes were observed in PER2 and PER3 gene expression. The data from cultured human dermal fibroblasts indicate that PPARγ-agonists may help regulate circadian molecular mechanisms. Given the shared genetic pathways between ADHD and obesity, future studies could investigate the potential of RSG as a treatment for circadian rhythm disorders, particularly in obese patients with ADHD.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":"709-721"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Martin Schulze Westhoff, Christina Massarou, Stefan Bleich, Johannes Heck, Konstantin Fritz Jendretzky, Alexander Glahn, Sebastian Schröder
{"title":"Drug interactions in a sample of inpatients diagnosed with cannabis use disorder.","authors":"Martin Schulze Westhoff, Christina Massarou, Stefan Bleich, Johannes Heck, Konstantin Fritz Jendretzky, Alexander Glahn, Sebastian Schröder","doi":"10.1007/s00702-025-02884-5","DOIUrl":"10.1007/s00702-025-02884-5","url":null,"abstract":"<p><p>The majority of patients with cannabis use disorder (CUD) regularly take medication. Cannabinoids influence metabolism of some commonly prescribed drugs. However, little is known about the characteristics and frequency of potential cannabis-drug (CDIs) and drug-drug interactions (DDIs) in patients with CUD. Therefore, our study aimed to determine the prevalence and characteristics of drug interactions in patients with CUD during inpatient treatment on an addiction-specific ward over a six-year-period. To this aim, medication charts were analyzed and screened for potential CDIs and DDIs. Herein, the drugs.com classification for potential CDIs and UpToDate Lexicomp program for potential DDIs were utilized. The study cohort consisted of 301 patient cases, predominantly male (85.0%), with a median age of 37 years. 89.4% (269/301) of all cases involved were taking at least one drug that could potentially interact with cannabis. Levomethadone, buprenorphine and morphine were the most common drugs involved in potentially serious CDIs. In addition, 196 DDIs were identified, of which 25.5% were classified as 'avoid combination' and 74.5% as 'consider therapy modification'. Hereby, combinations of levomethadone with other psychotropic drugs most frequently accounted for potentially severe and mild DDIs. The results of our study indicate that especially patients diagnosed with CUD also receiving opioid substitution therapy are at risk for potential drug interactions. Therefore, a clinical monitoring of vigilance and respiratory function should be applied during inpatient treatment. Routine use of interaction check tools in patients diagnosed with CUD should also be considered by healthcare providers. In addition, therapeutic drug monitoring (TDM) should be used to increase medication safety in this patient population.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":"723-730"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rhoda Olowe Taiwo, Hadassa Sterm Goldberg, Nili Ilouz, Prince Kumar Singh, Tawfeeq Shekh-Ahmad, Mia Levite
{"title":"Enigmatic intractable Epilepsy patients have antibodies that bind glutamate receptor peptides, kill neurons, damage the brain, and cause Generalized Tonic Clonic Seizures.","authors":"Rhoda Olowe Taiwo, Hadassa Sterm Goldberg, Nili Ilouz, Prince Kumar Singh, Tawfeeq Shekh-Ahmad, Mia Levite","doi":"10.1007/s00702-024-02855-2","DOIUrl":"10.1007/s00702-024-02855-2","url":null,"abstract":"<p><p>Epilepsy affects 1-2% of the world population, is enigmatic in 30% of cases, and is often intractable, unresponsive to antiepileptic drugs, and accompanied by cognitive, psychiatric and behavioral problems. Tests for Autoimmune Epilepsy are not performed routinely, and limited to passive diagnosis of known autoimmune antibodies, without essential functional tests to reveal active pathogenic antibodies. We investigated two young Epilepsy patients with different Epilepsy characteristics, repeated intractable seizures, and enigmatic etiology. We suspected Autoimmune Epilepsy. We found that both patients have elevated IgG antibodies, and three types of glutamate receptor antibodies, to: AMPA-GluR3B, NMDA-NR1 and NMDA-NR2 peptides. In contrast, they lack autoantibodies to: LGI1, CASPR2, GABA-RB1, Amphiphysin, CV2, PNMA1, Ri, Yo, Hu, Recoverin, Soxi and Titin. IgG antibodies of both patients bound and killed human neural cells In vitro. Moreover, In vivo video EEG studies in naive rats revealed that patient's IgG antibodies, infused continually into rat brain, bound neural cells in the hippocampus and cortex, caused neural loss in these brain regions, and induced recurrent Generalized Tonic Clonic Seizures. We assume they can do so also in the patient's brain. This is the first model of human Autoimmune Epilepsy in rats. It can serve for discovery of patient's pathogenic antibodies, and drug development. Tests for autoimmune antibodies that bind glutamate receptor peptides, and functional diagnostic tests, are obligatory in all enigmatic intractable Epilepsy patients. Current diagnosis of Autoimmune Epilepsy is insufficient! If pathogenic antibodies are found, intractable patients must receive available, suitable and potentially life-changing immunotherapies for Autoimmune Epilepsy.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":"663-688"},"PeriodicalIF":3.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C Buhmann, E Kalbe, I Claus, R Hilker-Roggendorf, T Müller, C W Ip, U Wüllner, R Krüger
{"title":"Parkinson´s day-clinic: which patients should be selected and what services should be offered for successful therapy?","authors":"C Buhmann, E Kalbe, I Claus, R Hilker-Roggendorf, T Müller, C W Ip, U Wüllner, R Krüger","doi":"10.1007/s00702-025-02923-1","DOIUrl":"https://doi.org/10.1007/s00702-025-02923-1","url":null,"abstract":"<p><p>The demographic development and the advance of intensified yet time and personnel-intensive therapeutic options constitute increasing challenges for the care of people with advanced Parkinson's disease (PD). Often, the multitude of motor and non-motor symptoms cannot be adequately addressed in an ambulatory setting The concept of a Parkinson's day clinic has been put forward to meet the requirements for these patients who not necessarily require the full medical support of an inpatient treatment and was included into the Parkinson's guidelines of the German Neurological Society as a novel and promising medical care model. While the guidelines put forward some recommendations as to which patients are most likely to benefit from treatment in a Parkinson's day clinic, it has not yet been decided which infrastructural, operational, personnel and qualitative requirements such a setting should provide. Here we provide recommendations on the basis of an expert consensus as to which patients will particularly benefit from treatment in a Parkinson´s day clinic and which services such a day clinic should address in order to provide successful therapy. Furthermore we suggest a standard operating procedure (SOP) and we give examples of patients who are suitable for treatment in a Parkinson´s day clinic.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Luis Gerber, Markus M Müller, Alexandra Oender, Sophia Urbanczyk, Peter Radermacher, Cosima Brucker, Barbara Stein, Christiane Waller, Nicolas Rohleder
{"title":"Psychological, neuroendocrine and inflammatory stress responses in women after miscarriage or stillbirth: investigating early psychobiological adaptations to potential traumatic events.","authors":"Luis Gerber, Markus M Müller, Alexandra Oender, Sophia Urbanczyk, Peter Radermacher, Cosima Brucker, Barbara Stein, Christiane Waller, Nicolas Rohleder","doi":"10.1007/s00702-025-02927-x","DOIUrl":"https://doi.org/10.1007/s00702-025-02927-x","url":null,"abstract":"<p><strong>Background: </strong>Miscarriage (MC) and stillbirth (SB) can be considered as potentially traumatic events (PTE) and affect approximately 10-20% of all pregnancies. PTEs can lead to the development of post-traumatic stress disorder (PTSD). While the psychobiology of PTSD is well-understood, our knowledge on psychobiological adaptations shortly after a PTE is limited. This study aimed to shed light on early psychobiological changes associated with MC and SB.</p><p><strong>Methods: </strong>We included 25 women who had experienced a MC/SB within the previous three months and compared them with 28 healthy control women. All participants were asked to attend a study appointment, during which they participated in a socially evaluated cold-pressor test (SECPT) to induce psychosocial stress. Saliva and blood samples were collected at rest, immediately and at 20, 45 and 90 min after the SECPT. We determined salivary cortisol levels and α-amylase (sAA) activity, and plasma interleukin-6 (IL-6) concentrations. We assessed symptoms of PTSD, anxiety and depression using self-report questionnaires.</p><p><strong>Results: </strong>Women who had experienced MC or SB reported significantly more symptoms of PTSD (p < 0.001) and anxiety (p < 0.001), when compared to the control group. Despite elevated psychological distress in the MC/SB group, there were no significant differences of salivary cortisol, sAA and IL-6 levels between the two groups at rest or after SECPT induced stress.</p><p><strong>Conclusions: </strong>Despite the high psychological strain on women after MC/SB, the stress is not yet reflected at a biological level. These results highlight the complex relationship between early trauma, PTSD symptoms, and biological responses. Further research is needed to understand the long-term effects of trauma related to MC/SB, and the development of PTSD, as well as the underlying mechanisms contributing to the observed psychological and biological changes.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}