Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2

Neurology

Volumn 81, Issue 2, 2013, Pages 157-164

  Lam, Erek M ^a,b   Shepard, Paul W ^a   Louis, Erik K St ^a   Dueffert, Lucas G ^a   Slocumb, Nancy ^a   McCarter, Stuart J ^a   Silber, Michael H ^a   Boeve, Bradley F ^a   Olson, Eric J ^a   Somers, Virend K ^a   Milone, Margherita ^a  

^a ST MARY S HOSPITAL   (United States)

^b UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DAYTIME SOMNOLENCE; FATIGUE; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOTONIC DYSTROPHY; PARASOMNIA; PITTSBURGH SLEEP QUALITY INDEX; PRIORITY JOURNAL; RESTLESS LEGS SYNDROME; SLEEP DISORDERED BREATHING; SLEEP QUALITY;

ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DISORDERS OF EXCESSIVE SOMNOLENCE; FATIGUE; FEMALE; HUMANS; MALE; MIDDLE AGED; MYOTONIC DISORDERS; PAIN; RESTLESS LEGS SYNDROME; SLEEP APNEA, OBSTRUCTIVE; SLEEP DISORDERS;

EID: 84881302437     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31829a340f     Document Type: Article

References (38)

1. Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatry 2010;81:358-367
2. Ashizawa T, Sarkar PS. Myotonic dystrophy types 1 and 2. Handb Clin Neurol 2011;101:193-237
3. Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-867
4. Laberge L, Bégin P, Montplaisir J, et al. Sleep complaints in patients with myotonic dystrophy. J Sleep Res 2004;13: 95-100
5. Laberge L, Bégin P, Dauvilliers Y, et al. A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1. J Neurol Neurosurg Psychiatry 2009;80:642-646
6. Romigi A, Izzi F, Pisani V, et al. Sleep disorders in adultonset myotonic dystrophy type 1: a controlled polysomnographic study. Eur J Neurol 2011;18:1139-1145
7. Yu H, Laberge L, Jaussent I, et al. Daytime sleepiness and REM sleep characteristics in myotonic dystrophy: a casecontrol study. Sleep 2011;34:165-170
8. Tieleman AA, Knoop H, van de Logt AE, et al. Poor sleep quality and fatigue but no excessive daytime sleepiness in myotonic dystrophy type 2. J Neurol Neurosurg Psychiatry 2010;81:963-967
9. Bhat S, Sander HW, Grewal RP, et al. Sleep disordered breathing and other sleep dysfunction in myotonic dystrophy type 2. Sleep Med 2012;13:1207-1208
10. Shepard PW, Lam EM, St Louis LK, et al. Sleep disturbances in myotonic dystrophy type 2. Eur Neurol 2012; 68:377-380
11. Buysse DJ, Reynolds CF, Monk TH. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res 1989;28:193-213
12. Allen RP, Burchell BJ, MacDonald B, et al. Validation of the self-completed Cambridge-Hopkins questionnaire (CHRLSq) for ascertainment of restless legs syndrome (RLS) in a population survey. Sleep Med 2009;10:1097-1100
13. Johns MW. A new method for measuring daytime sleepiness: the Epworth Sleepiness Scale. Sleep 1991;14:540-545
14. Laberge L, Gagnon C, Jean S, et al. Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability. J Neurol Neurosurg Psychiatry 2005;76:1403-1405
15. Krupp LB, LaRocca NG, Muir-Nash J, et al. The Fatigue Severity Scale: application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol 1989;46: 1121-1123
16. Douglass AB, Bornstein R, Nino-Murcia G, et al. The Sleep Disorders Questionnaire. I. Creation and multivariate structure of SDQ. Sleep 1994;17:160-167
17. Weatherwax KJ, Lin X, Marzec ML. Obstructive sleep apnea in epilepsy patients: the Sleep Apnea scale of the Sleep Disorders Questionnaire (SA-SDQ) is a useful screening instrument for obstructive sleep apnea in a disease-specific population. Sleep Med 2003;4:517-521
18. Boeve BF, Molano JR, Ferman TJ. Validation of the Mayo Sleep Questionnaire to screen for REM sleep behavior disorder in an aging and dementia cohort. Sleep Med 2011;12:445-453
19. Ware JE, Sherbourne CD. The MOS 36-item short-form health survey (SF-36): I: conceptual framework and item selection. Med Care 1992;30:473-483
20. Barraud Q, Obeid I, Aubert I, et al. Neuroanatomical study of the A11 diencephalospinal pathway in the nonhuman primate. PLoS One 2010;5:e13306
21. Zhao H, Zhu W, Pan T, et al. Spinal cord dopamine receptor expression and function in mice with 6-OHDA lesion of the A11 nucleus and dietary iron deprivation. J Neurosci Res 2007;85:1065-1076
22. Catoire H, Dion PA, Xiong L, et al. Restless legs syndrome- associated MEIS1 risk variant influences iron homeostasis. Ann Neurol 2011;70:170-175
23. Xiong L, Catoire H, Dion P, et al. MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Hum Mol Genet 2009;18:1065-1074
24. Thorpe AJ, Clair A, Hochman S, Clemens S. Possible sites of therapeutic action in restless legs syndrome: focus on dopamine and a2d ligands. Eur Neurol 2011;66: 18-29
25. Fugier C, Klein AF, Hammer C, et al. Misregulated alternative splicing of BIN1 is associated with T tubule alterationsand muscle weakness in myotonic dystrophy. Nat Med 2011;17:720-725
26. Tang ZZ, Yarotskyy V, Wei L, et al. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. Hum Mol Genet 2012;21:1312-1324
27. Vihola A, Sirito M, Bachinski LL, et al. Altered expression and splicing of Ca(21) metabolism genes in myotonic dystrophies DM1 and DM2. Neuropathol Appl Neurobiol Epub 2012 Jul 3.
28. Rau F, Freyermuth F, Fugier C, et al. Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. Nat Struct Mol Biol 2011;18:840-845
29. Sun ER, Chen CA, Ho G, et al. Iron and the restless legs syndrome. Sleep 1998;21:371-377
30. Ciafaloni E, Mignot E, Sansone V, et al. The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology 2008;70:226-230
31. Dauvilliers YA, Laberge L. Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation. Sleep Med Rev 2012;16:539-545
32. Martínez-Rodríguez JE, Lin L, Iranzo A, et al. Decreased hypocretin-1 (orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness. Sleep 2003;26:287-290
33. Orlikowski D, Chevret S, Quera-Salva MA, et al. Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: a multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial. Clin Ther 2009;31:1765-1773
34. Chokroverty S, Bhat S, Rosen D, et al. REM behavior disorder in myotonic dystrophy type 2. Neurology 2012; 78:2004.
35. McCarter SJ, St Louis EK, Boeve BF. REM sleep behavior disorder and REM sleep without atonia as an early manifestation of degenerative neurological disease. Curr Neurol Neurosci Rep 2012;12:226.
36. Boot B, Boeve B, Roberts R, et al. Probable REM sleep behavior disorder increases risk for mild cognitive impairment and Parkinson's disease: a population-based study. Ann Neurol 2012;71:49-56
37. Boeve B, Molano J, Ferman T, et al. Screening for REM sleep behavior disorder in patients with cognitive impairment and/or parkinsonism: updated validation data on the Mayo Sleep Questionnaire. Neurology 2009;72: A248.
38. Boeve BF. REM sleep behavior disorder: updated review of the core features, the RBD-neurodegenerative disease association, evolving concepts, controversies, and future directions. Ann NY Acad Sci 2010;1184:15-54.