Table.
Demographics and clinical characteristics of 2 cases with PSP-RS with MAPT mutation, and patients with PSP-RS who did not have MAPT mutation.
| Variables | Case 1 | Case 2 | Patients with PSP-RS without MAPT mutation* |
|---|---|---|---|
| Gender [M] | M | M | 10 (50 %) |
| Education | 12 | 12 | 14 (12–16) |
| Family history [Yes] | Y | Y | 3 (17.64 %) |
| Age of onset | 60 | 62 | 63 (59.75–65) |
| Time from onset to first neurological evaluation (y) | 2.2 | 3.4 | 4.05 (3.25–5-37) |
| Apo E genotype | 33 | 34 | 5 (25 %)¥ |
| MoCA | 18 | 25 | 23.5 (21.25–26) |
| UPDRS I | 15 | 2 | 13 (10–19) |
| UPDRS II | 22 | 13 | 24 (14–27) |
| UPDRS III | 39 | 50 | 38.5 (34–48.25) |
| PSPRS | 37 | 43 | 41.5 (32–49.25) |
| PSPRS-G/M | 15 | 13 | 13 (9.75–14.5) |
| PSIS | 2 | 3 | 3.5 (3–4) |
| CBI | 40 | 14 | 37.5 (21.5–43.5) |
| FAB | 15 | 15 | 14 (13–16) |
| BNT | 13 | 6 | 14 (13–14) |
| Camden-F | 18 | 19 | 23 (21–24) |
| Camden-W | 18 | 23 | 24 (20–25) |
| PiB PET-SUVR† | 1.41 | 1.39 | 1.42 (1.36–1.5) |
Values are reported as median (first and third quartile) and number (percent) where appropriate.
Number (percent) of patients with PSP-RS without MAPT mutation who had an ApoE ε4 for the second allele.
SUVR>1.48 was considered as positive.
M= Male; Y= Years; Apo E= Apolipoprotein E (for patients with PSP-RS without MAPT mutation, the number of patients with a ε4 allele was included); MoCA= Montreal Cognitive Assessment; UPDRS= Movement Disorders Society- sponsored revision of the Unified Parkinson’s Disease Rating Scale; PSPRS= Progressive Supranuclear Palsy- Rating Scale; PSPRS-G/M= Progressive Supranuclear Palsy- Rating Scale-gait/midlines; Journal Pre-proof PSIS= PSP Saccadic Impairment Scale; FAB= Frontal Assessment Battery; CBI= Cambridge Behavioral Inventory; BNT= Boston Naming Test; Camden-F and Camden-W = Camden Memory Test –Short Recognition Memory Test for faces and words, respectively; PiB PET= Positron Emission Tomography scans with 11C-Pittsburgh compound B; SUVR= Standard Uptake Value Ratios; NA= Not Available.
Data regarding CBI and BNT was available in 18 patients, and data regarding Camden-F and W, UPDRS I and II, and family history was available in 17 patients. Rest of the variables were available in all 20 cases.