The hypocretin neurotransmission system in myotonic dystrophy type 1

Ciafaloni, Emma; Mignot, Emmanuel; Sansone, Valeria; Hilbert, James E.; Lin, Leo; Lin, Xiaoyan; Liu, L. C.; Pigeon, Wilfred R.; Perlis, Michael L.; Thornton, Charles A.

doi:10.1212/01.wnl.0000296827.20167.98

Cited by 81 publications

(50 citation statements)

References 33 publications

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“…CREB mediates gene expression in various mood, stress, and anxiety disorders. In human patients with depression, CREB levels are downregulated in brain tissue [54][55][56][57]. By contrast, chronic anti-depressant treatment upregulates CREB, and increasing CREB levels in rodent models resulting in anti-depressant-like behaviors [58].…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Heterodimerization of human orexin receptor 1 and kappa opioid receptor promotes protein kinase A/cAMP-response element binding protein signaling via a Gαs-mediated mechanism

Chen

Zhang

Chen

et al. 2015

Cellular Signalling

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Section: Accepted Manuscriptmentioning

confidence: 99%

Heterodimerization of human orexin receptor 1 and kappa opioid receptor promotes protein kinase A/cAMP-response element binding protein signaling via a Gαs-mediated mechanism

Chen

Zhang

Chen

et al. 2015

Cellular Signalling

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“…TCS has become a reliable and sensitive diagnostic tool in the evaluation of extrapyramidal movement disorders, ataxias, and in many neurological disorders with psychiatric symptoms as well as in restless legs syndrome (RLS) [6][7][8][9][10][11][12][13][14][15][16][17][18][19]. This is of particular interest since different features like depression, excessive daytime sleepiness (EDS) and RLS occur frequently in DM 1 and also in DM2 [11][12][13].…”

Section: Introductionmentioning

confidence: 99%

“…This is of particular interest since different features like depression, excessive daytime sleepiness (EDS) and RLS occur frequently in DM 1 and also in DM2 [11][12][13]. In DM1, alterations of hypocretin release or missplicing of the hypocretin receptor 1 could be excluded and the pathophysiology of EDS is unclear so far [14].Interestingly, in an immunhistochemical study loss of serotonin-containing neurons in the raphe nucleus of DM-patients could be related to hypersomnia [15].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

et al. 2014

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Myotonic dystrophies (DMs) are clinically similar but distinct multisystemic diseases related to different repeat expansion mutations. CNS involvement is one important aspect of both, myotonic dystrophy type 1 and type 2 (DM1, DM2). Transcran ial sonography (TCS) has become a reliable diagnostic tool in the evaluation of several CNS disorders. The aim of this study was to evaluate TCS-findings in DM-patients in correlation with their clinical status. Thirty-one DM-patients (DM1 = 17; DM2 = 14) were examined clinically and sonographically by independent physicians. Echogenicities of basal ganglia and mesencephalic regions were assessed according to the examination protocol for extrapyramidal disorders using a Toshiba Aplio(®) XG ultrasound system. TCS abnormalities were correlated to clinical findings and secondly compared to 31 controls. Ventricle diameters were additionally compared to 3T-MRI volumetry. Nine patients (29 %) showed hyperechogenicity of substantia nigra. Mesencephalic raphe was hypoechogenic in nine (29 %) DM-patients and was more frequently in DM1 patients (p = 0.021). Width of third ventricle was significantly larger in the patient group (p = 0.021) and correlated with MRI-based volumetry (R (2) = 0.756). Pathological raphe signal was observed mainly in patients suffering from daytime sleepiness (sensitivity = 42.1 %, specificity = 88.9 %, p = 0,044), while alterations did not correlate with symptoms of depression. As a novel finding, a relation between mesencephalic raphe echogenicity and excessive daytime sleepiness could be identified in our DM-patients. An alteration of serotonergic raphe structures might be involved in the pathogenesis of hypersomnia in DM. TCS allows for measurement of third ventricle enlargement as a feasible bedside test.

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“…Its etiology may involve not only nocturnal hypoventilation but also dysregulation of the central sleep regulatory circuits [42]. & Because stimulants have addictive potential, undesirable adverse effects, or both, modafinil, a nonaddictive medication, has become the target of several studies of somnolence and fatigue in DM [41,43- …”

Section: Management Of Excessive Daytime Sleepinessmentioning

confidence: 99%

Myotonia Congenita and Myotonic Dystrophy: Surveillance and Management

Conravey

Santana-Gould

2010

Curr Treat Options Neurol

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Myotonia can be treated both pharmacologically and by lifestyle modifications. Cell membrane stabilizers are the medications most commonly used for symptomatic treatment of myotonia. Most patients do not require treatment for the myotonia itself, unless it is severe, but physicians must be aware of anesthesia risks in both myotonia congenita and myotonic dystrophy. A mainstay of management of myotonic dystrophy is the surveillance and treatment of its various systemic complications.

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The hypocretin neurotransmission system in myotonic dystrophy type 1

Cited by 81 publications

References 33 publications

Heterodimerization of human orexin receptor 1 and kappa opioid receptor promotes protein kinase A/cAMP-response element binding protein signaling via a Gαs-mediated mechanism

Heterodimerization of human orexin receptor 1 and kappa opioid receptor promotes protein kinase A/cAMP-response element binding protein signaling via a Gαs-mediated mechanism

Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography

Myotonia Congenita and Myotonic Dystrophy: Surveillance and Management

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