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Table 2 Clinical and pathological features in the present case (case 1) and previously reported PSEN1-linked CWP-AD cases (cases 2–28)

From: Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer’s disease with cotton wool plaques due to a novel presenilin1 G417S mutation

Case Sex Age at onset (y) Age at death (y) Duration (y) Initial symptoms Spastic paraparesis Parkinsonism Brain weight (g) CWPs Lewy body disease PSEN1 mutation References
1 f 25 54 29 cognitive impairment + + 895 + diffuse G417S Present case
2 n.d. 29 n.d. n.d. spastic paraparesis + n.d. n.d. + n.d. P436Q Houlden H et al. [6]
3 m 30s 48 n.a. disorientation n.d. n.d. + n.d. L420R Shrimpton AE et al. (II:1) [20]
4 f 31 43 12 forgetfulness + 1170 + L420R Niwa A et al. [14]
5 m 34 39 5 morbid jealousy n.d. 1550 + n.d deletion of exon 9 sequence from PSEN1 transcripts Brooks WS et al. (EOFAD-2 IV:45) [3]
6 m 34 52 18 parkinsonism + 1150 + diffuse in-frame 3bp ACC deletion in exon 12 Ishikawa A et al. [8]
7 n.d. 36 n.d. n.d. spastic paraparesis + n.d. n.d. + n.d. Δ83,84IM Houlden H et al. [6]
8 f 37 50 13 cognitive dysfunction, parkinsonism + + 740 + limbic G217D Takao M et al. (case III-2) [23]
9 f 40 biopsy n.a. cognitive impairment + n.d. biopsy + n.d. E280G O’Riordan S et al. (patient 3) [17]
10 f 41 45 4 cognitive decline n.d. 992 + n.d. G- > T exon 9 splice acceptor mutation Brooks WS et al. (EOFAD-3 II:10) [3]
11 m 41 46 5 dementia n.d. n.d. n.d. + n.d. deletion of exon 9 Smith MJ et al. (case II:12) [22]
12 m 42 46 4 antiflexion gait + + 1150 + G217D Takao M et al. (case III-1) [23]
13 f 46 52 6 memory loss and disorientation n.d. 1144 + n.d. G217R Norton JB et al. (case 4:4) [15]
14 m 46 65 19 depression + + 1100 + P264L Martikinen P et al. (case 3) [12]
15 f 47 51 4 cognitive decline + n.d. n.d. + n.d. G- > T exon 9 splice acceptor mutation Brooks WS et al. (EOFAD-3 II:8) [3]
16 m 47 67 20 spasticity and weakness in legs + n.d. 1110 + E280G Sinha N et al. [21]
17 f 50 53 3 spastic paraparesis + n.d. n.d. + n.d. deletion of exon 9 Smith MJ et al. (case III:9) [22]
18 f 50 60 10 cognitive decline n.d. 918 + n.d. deletion of exon 9 sequence from PSEN1 transcripts Brooks WS et al. (EOFAD-2 III:18) [3]
19 f 51 68 17 memory impairment + 1050 + P264L Martikinen P et al. (case 1) [12]
20 m 52 56 4 cognitive decline n.d. 910 + n.d. deletion of exon 9 sequence from PSEN1 transcripts Brooks WS et al. (EOFAD-2 IV:23) [3]
21 m 52 56 4 dementia n.d. n.d. n.d. + n.d. deletion of exon 9 Smith MJ et al. (case II:7) [22]
22 m 52 67 15 memory difficulty and weakness in both legs + n.d. 890 + n.d. E280Q Rogaeva E et al. [18]
23 f 54 63 9 dementia and spastic paraparesis + n.d. n.d. + n.d. deletion of exon 9 Smith MJ et al. case (III:7) [22]
24 m 54 64 10 dementia + n.d. 1360 + n.d. deletion of exon 9 Crook R et al. (case III:15) [4]
25 m 55 61 6 back pain, stiffness of legs + n.d. n.d. + n.d. deletion of exon 9 splice site Crook R et al. (patient III:9) [4]
26 m 57 69 12 dementia + n.d. 1075 + n.d. deletion of exon 9 Crook R et al. (case III:14) [4]
27 m 58 75 17 memory impairment + 1320 + P264L Martikinen P et al. (case 2) [12]
28 f n.d. 60 n.a. n.d. n.d. n.d. + n.d. L271V Kwok JB et al. (III:28) [10]
  1. Cases are shown in the order of the age at onset. m, male; f, female; +, present; −, absent; n.d., not described; n.a., not available; CWPs, cotton wool plaques; diffuse, diffuse neocortical type Lewy body disease [13]; limbic, limbic type Lewy body disease [13]