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Abstract
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.
Glossary
- AHI=
- apnea/hypopnea index;
- DM1=
- myotonic dystrophy type 1;
- EDS=
- excessive daytime sleepiness;
- ESS=
- Epworth Sleepiness Scale;
- Hcrt=
- hypocretin;
- MIRS=
- Muscular Impairment Rating Scale;
- MSL=
- mean sleep latency;
- MSLT=
- multiple sleep latency test;
- PLM=
- periodic limb movement;
- PSG=
- polysomnography;
- SL=
- sleep onset latency;
- SOREMP=
- sleep onset REM periods;
- UM=
- University of Milan, Italy;
- URMC=
- University of Rochester Medical Center.
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