Table 4.
Case | Premortem Clinical Diagnosis | 19 ADNC | 6 ADNC | 19 LBD Bk | 6 LBD Bk | 19 CAA | 6 CAA | 19 AS | 6 AS | 19 Other | 6 Other |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | AD | H | H | 0 | 0 | 2 | 2 | 2 | 2 | Mic-inf | None |
2 | AD | H | H | 0 | 0 | 0 | 0 | 0 | 0 | HS-TDP43 | HS-TDP43b |
3 | AD | H | H | 5 | 5 | 1 | 2 | 3 | 3 | Mic-inf | None |
4 | AD | H | H | AD-rel | AD-rel | 2 | 3 | 3 | 3 | TDP43pr | TDP43prb |
5 | AD | H | H | 0 | 0 | 0 | 0 | 1 | 1 | None | None |
6 | AD | H | H | 0 | 0 | 2 | 2 | 2 | 2 | None | None |
7 | AD | H | H | 0 | 0 | 3 | 3 | 3 | 3 | AHI | AHI |
8 | AD | H | H | AD-rel | AD-rel | 3 | 3 | 2 | 2 | None | None |
9 | AD | H | H | 0 | 0 | 1 | 1 | 2 | 1 | None | None |
10 | AD | i | L | 0 | 0 | 2 | 2 | 2 | 2 | TDP43pr | None |
11 | AD, Presenilin-1 mutant | H | H | 0 | 0 | 2 | 1 | 1 | 1 | None | None |
12 | AD (PCA) | H | H | 5 | 5 | 3 | 3 | 0 | 0 | TDP43pr | TDP43prb |
13 | AD versus NPH | H | H | 0 | 0 | 1 | 2 | 2 | 2 | Mic-inf | None |
14 | AD, early onset | H | H | 5 | 5 | 2 | 2 | 2 | 2 | None | None |
15 | AD, ?lvPPA | H | H | AD-rel | 0 | 3 | 3 | 2 | 2 | TDP43pr | TDP43prb |
16 | AD versus FTD | i | i | 6 | 6 | 0 | 0 | 0 | 0 | TDP43pr | None |
17 | Dementia, unclear etiology | H | H | 5 | 3 | 2 | 2 | 3 | 3 | TDP43pr | TDP43prb |
18 | Mixed dementia | H | H | 0 | 0 | 0 | 0 | 3 | 3 | TDP43pr | TDP43prb |
19 | Mixed dementia with CAA | H | H | AD-rel | 0 | 0 | 0 | 2 | 2 | AHI | AHI |
20 | AD with component of parkinsonism | L | L | 5 | 4 | 0 | 0 | 2 | 2 | None | None |
21 | Dementia, ?PD | L | L | 5 | 5 | 2 | 2 | 3 | 3 | TDP43pr | TDP43prb, Mic-inf |
22 | CAA | H | H | 0 | 0 | 3 | 3 | 2 | 2 | None | None |
23 | CAA | L | L | 0 | 0 | 4 | 4 | 3 | 3 | AHI | AHI |
24 | MCI, ?CBS, ?FTLD | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 | None | None |
25 | MCI | i | i | 0 | 0 | 2 | 2 | 1 | 1 | None | None |
26 | MCI | H | H | AD-rel | AD-rel | 2 | 2 | 2 | 2 | TDP43pr | TDP43prb |
27 | CBS versus PD versus DLB versus AD versus mixed | L | L | 5 | 5 | 2 | 2 | 1 | 1 | AHI | AHI |
28 | PD | i | i | 6 | 5 | 1 | 1 | 2 | 2 | AHI, Mic-inf | AHI |
29 | PD | 0 | 0 | 5 | 4 | 0 | 0 | 2 | 2 | None | None |
30 | PD | 0 | 0 | 3 | 3 | 0 | 0 | 3 | 3 | PART | PART |
31 | PD | i | L | 4 | 4 | 0 | 0 | 3 | 3 | TDP43pr | TDP43prb |
32 | PD | L | L | 5 | 5 | 0 | 0 | 1 | 1 | None | None |
33 | PDD | L | L | 5 | 5 | 0 | 0 | 1 | 1 | AHI | None |
34 | DLB | H | H | 5 | 5 | 0 | 0 | 2 | 2 | None | None |
35 | FTD with component of CBS | H | H | 0 | 0 | 0 | 0 | 1 | 1 | None | None |
36 | FTD, known GRN mutation | L | L | 0 | 0 | 0 | 0 | 0 | 0 | FTLD-TDP, AHI | FTLD-TDPb, AHI |
37 | FTD | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | CBD | CBD |
38 | FTD | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | FTLD-TDP | FTLD-TDPb, AHI |
39 | svPPA | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | FTLD-TDP, AHI | FTLD-TDPb, AHI |
40 | lvPPA | H | H | 0 | 0 | 0 | 0 | 3 | 2 | None | None |
41 | lvPPA | H | H | AD-rel | AD-rel | 2 | 2 | 1 | 1 | None | None |
42 | navPPA | H | H | 0 | 0 | 0 | 0 | 1 | 1 | PSP | PSP |
43 | navPPA, ?PSP | L | L | 0 | 0 | 0 | 0 | 3 | 2 | PSP | PSP |
44 | PSP | L | L | 0 | 0 | 0 | 0 | 1 | 1 | PSP | PSP |
45 | PSP | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | PSP | PSP |
46 | MSA-P | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 1 | MSA | MSA |
47 | MSA-C | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | MSA | MSA |
48 | Control; ?Mixed dementia | L | L | 5 | 4 | 2 | 2 | 2 | 1 | AHI | AHI |
49 | Control | L | L | 0 | 0 | 0 | 0 | 2 | 2 | AHI | AHI |
50 | Control | L | L | 0 | 0 | 0 | 0 | 3 | 2 | AHI | Mic-inf |
51 | Control | H | H | 5 | 5 | 3 | 3 | 3 | 2 | TDP43pr | TDP43prb |
52 | Control | L | L | 0 | 0 | 0 | 0 | 1 | 1 | Mic-inf | Mic-inf |
Abbreviations: ADNC, Alzheimer disease neuropathologic changes (scores: H, high; i, intermediate; L, low; 0, not); AD-rel, Alzheimer disease–related Lewy bodies; AHI, acute hypoxic/ischemic injury; AS, arteriolosclerosis (grades: 1, mild; 2, moderate; 3, severe); CAA, cerebral amyloid angiopathy (Vonsattel grades 0–4); CBD, corticobasal degeneration; CBS, corticobasal syndrome; FTD, frontotemporal dementia; FTLD, frontotemporal lobar degeneration; LBD Bk, Lewy body disease Braak staging (Braak stages 0–6); lvPPA, logopenic variant primary progressive aphasia; MCI, mild cognitive impairment; Mic-inf, microinfarct; MSA, multiple system atrophy; navPPA, nonfluent/agrammatic variant primary progressive aphasia; PART, primary age-related tauopathy; PSP, progressive supranuclear palsy; TDP43pr, TDP43-related proteinopathy; Unk, unknown.
Neuropathology results from the MADRC protocol (19) compared with the simplified protocol (6). Differences between the 2 protocols are italicized.
TDP43 immunohistochemistry done retrospectively (see Table 3 key for the clinical diagnosis acronyms).