Table 1.

Mutations Found in 14 Patients with EOD

Patient	Origina	DNA Mutation	Predicted Protein Alteration	Mutation Confirmationb	Family Historyc	Onsetd	Cosegregatione
1	G	GCC→GTC	PS1 A79V	−HhaI	Early	∼58	NA
2	G	TTT→TTG	PS1 F105Lf	+Bst1107 I	Early	∼52	NA
3	G	ATG→GTG	PS1 M139V	−NlaIII	Early	32	NA
4	G	GAA→GGA	PS1 E318Gg	ASP	Negative	53	ND
5	G	GAA→GGA	PS1 E318Gg	ASP	Late	53	NA
6	G	ACG→CCG	PS2 T122Pf	−AciI	Early	46	+
		del 24bp	PrP del r34h	Sequencing			−
7	I	ATG→ATA	PS2 M239If	−HaeIII	Early	58	+
8	G	GTC→ATC	APP V717I	+BclI	Early	∼50	NA
9	G	GTC→ATC	APP V717I	+BclI	Unknown	53	ND
10	T	GTC→ATC	APP V717I	+BclI	Unknown	54	ND
11	G	CCG→CTG	PrP P102L	+DdeI	Early	40	+
12	A	CAA→TAA	PrP Q160Xf	+ DdeI	Early	32	+
13	G	ACA→GCA	PrP T183A	ASP	Early	40	+
14	A	ACG→AAG	PrP T188Kf	ASP	Negative	59	ND

^aG = Germany; T = Thailand; I = Italy; A = Austria.

^bConfirmation of mutation by restriction endonuclease digestion (+ / − = gain / loss of cleavage site, respectively) or allele-specific PCR (ASP).

^cEarly = EOD; late = late-onset dementia reported in first-degree relatives of the index patient; unknown = family history unknown or not informative; negative = family history negative for dementia.

^dAge at onset of dementia in index patient.

^eNA = No family material available for segregation analysis; ND = unknown or negative family history; + = cosegregation; − = no cosegregation of EOD with the mutation.

^fMutation not described previously.

^gThis mutation affects an evolutionarily-not-conserved residue, and it seems to be a nonpathogenic polymorphism.

^hThis in-frame deletion seems to be a nonpathogenic polymorphism.