Table 3.
Clinical and demographic characteristics of the 9 patients carrying the variants.
| P01 | P05 | P06 | P10 | P11 | P12 | P20 | P21 | P23 | |
|---|---|---|---|---|---|---|---|---|---|
| Clinical variant | rtv | sv | sv | rtv | sv | sv | sv | sv | sv |
| Gender | M | M | F | M | M | F | F | M | F |
| Family history | pos | pos | neg | neg | pos | pos | neg | pos | pos |
| Age at onset | 50 | 47 | 59 | 67 | 65 | 37 | 63 | 61 | 58 |
| Disease duration | 5 | 12 | na | 5 | 8 | 7 | 6 | 6 | 2 |
| Gene variant | MAPT N286N | MAPT P301L | OPTN Q314L | CHCHD10 P80L | PRKN T240M | MAPT Q336H | SQSTM1 E280/del | VCP G376E | SQSTM1 P387L |
| PSEN1 M93V | DCTN1 R795H | TBK1 I207T | |||||||
| CSF analysis/amyloid-PET | PET-amyloid neg | Normal CSF | Normal CSF | Normal CSF | Normal CSF | Reduced Aβ42, | na | Normal Aβ42, elevated tau and p-tau | na |
| normal tau and p-tau | |||||||||
| MMSE (/30) | 18* | 4* | 25 | 27* | na | 9* | 26 | 12* | na |
| MoCA (/30) | na | na | na | na | na | na | na | na | 22* |
| FAB (/18) | 13* | na | na | 12* | na | 9* | 15 | 4* | 16 |
| FBI (/72) | 33 | na | na | 14 | na | 21 | 12 | 8 | na |
rtv = right temporal variant; sv = semantic variant; na = not available; CSF = cerebrospinal fluid; PET = positron emission tomography; MMSE = Mini-Mental State Examination; MoCA = Montreal Cognitive Assessment; FAB = Frontal Assessment Battery; FBI = Frontal Behavioral Inventory.
*
under cut-off; pos = positive; neg = negative. For MAPT, reference NM_005910 is used.