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

Miki, Tomoko; Yokota, Osamu; Haraguchi, Takashi; Ikeuchi, Takeshi; Zhu, Bin; Takenoshita, Shintaro; Terada, Seishi; Yamada, Norihito

doi:10.1186/s40478-019-0672-z

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]

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]

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