The hypocretin neurotransmission system in myotonic dystrophy type 1
| العنوان: | The hypocretin neurotransmission system in myotonic dystrophy type 1 |
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| المؤلفون: | L. Lin, Emma Ciafaloni, Lynn Liu, Xiaoyan Lin, Charles A. Thornton, Valeria A. Sansone, Michael L. Perlis, Emmanuel Mignot, Wilfred R. Pigeon, James E. Hilbert |
| المصدر: | Neurology. 70:226-230 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2008. |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | Adult, Genetic Markers, Male, Receptors, Neuropeptide, Sleep Wake Disorders, musculoskeletal diseases, Multiple Sleep Latency Test, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Polysomnography, DNA Mutational Analysis, Radioimmunoassay, Excessive daytime sleepiness, Comorbidity, Myotonic dystrophy, Receptors, G-Protein-Coupled, Cohort Studies, Orexin Receptors, Internal medicine, medicine, Humans, Myotonic Dystrophy, Genetic Predisposition to Disease, Prospective Studies, Aged, Temporal cortex, Orexins, medicine.diagnostic_test, business.industry, Neuropeptides, Intracellular Signaling Peptides and Proteins, Middle Aged, medicine.disease, Myotonia, Orexin receptor, Alternative Splicing, Endocrinology, Mutation, Female, Neurology (clinical), medicine.symptom, business, Narcolepsy |
| الوصف: | Background: Patients with myotonic dystrophy type 1 (DM1) frequently have symptoms of excessive daytime sleepiness (EDS). Some patients with DM1 show sleep-onset REM, similar to that observed in narcolepsy. Narcolepsy is characterized by impaired hypocretin (Hcrt) neurotransmission. Objective: To test for dysregulation of Hcrt neurotransmission in a prospective cohort of patients with DM1. Methods: Hcrt levels in CSF were measured by radioimmunoassay. Sleep physiology was assessed by overnight polysomnography (PSG) and a multiple sleep latency test (MSLT). Splicing of Hcrt receptor 1 and 2 (HcrtR1 and HcrtR2) mRNA was examined in postmortem samples of temporal cortex. Results: Seventeen of 38 patients with DM1 reported symptoms of EDS. Among patients with DM1 with EDS who underwent PSG/MSLT, 7 of 13 showed reduced sleep latency, sleep-onset REM, or both. However, CSF Hcrt levels in DM1 (mean 277 pg/mL, n = 38) were not different from controls (mean 277 pg/mL, n = 33). Also, splicing of HcrtR1 and HcrtR2 mRNA in patients with DM1 was similar to controls. Conclusions: Excessive daytime sleepiness and dysregulation of REM sleep occur frequently in patients with myotonic dystrophy type 1 (DM1). However, the pathophysiologic basis is distinct from narcolepsy, as patients with DM1 do not have a consistent defect of Hcrt release or receptor splicing. |
| تدمد: | 1526-632X 0028-3878 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4abf01bd2a9ec27982bdeb068d1001afTest https://doi.org/10.1212/01.wnl.0000296827.20167.98Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4abf01bd2a9ec27982bdeb068d1001af |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1526632X 00283878 |
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