Table 4.
Summary of primary neuropathologic diagnoses in subjects with PSG-confirmed or probable RBD who underwent autopsy.
| Primary neuropathologic diagnosis | All cases n = 172 | PSG-confirmed n = 82 | pRBD – DEB n = 64 | pRBD – MSQ n = 26 |
|---|---|---|---|---|
| Neurodegenerative/prion | ||||
| Lewy body diseasea | 77 (2) | 34 | 32 (1) | 11 (1) |
| Combined LBD and AD | 59 (5) | 25 (2) | 22 (3) | 12 |
| Multiple system atrophy | 19 | 16 | 3 | 0 |
| AD | 6 (2) | 1 | 2 | 3 (2) |
| Progressive supranuclear palsy | 2 | 1 | 1 | 0 |
| Other | ||||
| Combined LBD and MSA | 3 | 2 | 1 | 0 |
| Combined LBD and ALS | 1 | 1 | 0 | 0 |
| NBIA-1 + LBD + tauopathy | 1 | 0 | 1 | 0 |
| CJD and ALS | 1 | 0 | 1 | 0 |
| Indeterminate degenerative | 1 | 0 | 1 | 0 |
| Inflammatory/other | ||||
| Hypothalamic inflammatory lesion associated with VGKC antibody | 1 | 1 | 0 | 0 |
| Indeterminate hypothalamic lesion | 1 | 1 | 0 | 0 |
| Synucleinopathy among neurodegenerative diseases | 160/170 = 94% | 78/80 = 98% | 58/64 = 91% | 23/26 = 88% |
Values in parentheses represent the number of cases with coexisting cerebrovascular disease likely contributing to some of the antemortem features.
Abbreviations: AD, Alzheimer’s disease; ALS, amyotrophic lateral sclerosis; CJD, Creutzfeldt-Jacob disease; DEB, history of recurrent dream enactment behavior; LBD, Lewy body disease; MSA, multiple system atrophy; NBIA-1, neurodegeneration with brain iron accumulation type 1; pRBD, probable REM sleep behavior disorder; PSG, polysomnogram; MSQ, screened positive for probable RBD on the Mayo Sleep Questionnaire; RBD, REM sleep behavior disorder; VGKC, voltage-gated potassium antibody.
One LBD case was found to have a duplication of the gene encoding alpha-synuclein (SNCA).