Table 1.
Summary of Clinical and Demographic Information in Hereditary Pick Disease
| MAPT mutation | Exon (haplotype) |
Family history of dementia |
Gender | Age of onset (years) |
Disease duration (years) |
Age of onset (years) |
First symptom | Extrapyramidal symptoms |
|---|---|---|---|---|---|---|---|---|
| Sporadic Pick disease | no | 30F vs. 32M (5) | 42 – 70, mean 60 ± 6.5 (n=21) (8) |
11 ± 6 (n=39) (5); 2 – 16, mean 9 (8) |
mean 68 ± 10 (n=44) (5) |
Pick complex (bvFTD> PPA> mixed or early memory disturbance) (5) | Rare (30) | |
| p.K257T (c.770A>C), (38) |
9 (H1/H1) (1) & (2) | 2 maternal uncles* | M | 47 | 4 | 51 | bvFTD | N/A |
| p.G272V (c.815G>T), (11) |
9 (N/A) | (1): father, brother, sister; (2): father, brother, son |
F (1) F (2) |
45 (1); 52 (2) |
9 (1); 15 (2) |
54 (1); 67 (2) |
bvFTD (1) & (2) | absent (1) & (2) |
| p.ΔK280 (c.838_840delAAG) (18) |
10 (H1/H1) | father | F | 53 | 10 | 63 | bvFTD | absent |
| p.S320F (c.959C>T), (19) |
11 (N/A) | mother | M | 38 | 15 | 53 | initial mild memory problems, later fluent aphasia (PPA) | absent |
| p.Q336R (c.1007A>G), (16) |
12 (N/A) | father, paternal grandfather and 2 uncles | M | 58 | 10 | 68 | initial memory problems, at 4 years bvFTD and PPA |
N/A |
| p.Q336H (c.1008 G>C) | 12 (H1/H1) | mother and maternal uncle | M | 55 | 8 | 63 | bvFTD | hand tremor, unsteady gait, bradykinesia and rigidity |
| p.K369I (c.1106A>T), (20) |
12 (N/A) | N/A | F | 50 | 11 | 61 | bvFTD | absent |
*
Possibly incomplete penetrance; N/A, not available; F, females; M, males; pos, positive; neg, negative; (1), patient 1, (2), patient 2; bvFTD, behavioral variant of frontotemporal dementia; PPA, primary progressive aphasia.