A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease

Figures & data

Table 1 Clinical characteristics of the subjects

	All (n=104)	Family history (n=24)	No family history (n=80)
Sex, F	63 (60.6%)	17 (70.8%)	46 (57.5%)
Age, years	60±5.4	61.0±6.0	59.4±5.2
Age at onset, years	56.3±5.6	57.2±6.3	56.1±5.4
Education, years	9.0±4.5	9.3±4.8	9.0±4.5
MMSE	18±6.9	18.3±6.5	17.9±7.0
CDR	1.1±0.7	1.1±0.7	1.1±0.8
CDR-SOB	5.8±4.5	5.5±4.0	5.9±4.7
APOE genotype
ε2ε3	2 (1.9%)	1 (4.2%)	1 (1.3%)
ε3ε3	44 (42.3%)	10 (41.7%)	34 (42.5%)
ε3ε4	46 (44.2%)	8 (33.3%)	38 (47.5%)
ε4ε4	12 (11.5%)	5 (20.8%)	7 (8.8%)

Note: Data are presented as mean ± standard deviation or n (%).

Abbreviations: CDR, clinical dementia rating; CDR-SOB, clinical dementia rating-sum of boxes; F, female; MMSE, mini-mental state examination.

Table 2 The EOAD subjects with identified genetic mutations

Mutation	Pathogenic	Sex/AO/APOE	FH	Presenting symptoms	MMSE/CDR at imaging	Imaging	CSF
PSEN1 T116I	Causative (La Bella et al^Citation17)	Female/38/ε2ε3	Yes	Memory loss	23/0.5	MRI: atrophy in med T FDG-PET: ↓ met in bi T & P	tTau/Aβ42, 4.53; pTau181/Aβ42, 0.43
PSEN1 L226F	Causative (Zelanowski et al;^Citation16 Bagyinszky et al^Citation22)	Female/37/ε3ε3	No	Memory loss	21/1	MRI: atrophy in med T & P FDG-PET: ↓ met in bi T & P	ND
PSEN2 R62C	Unclear (Sleegers et al;^Citation21 Ertekin-Taner et al;^Citation20 Brouwers et al^Citation19)	Male/49/ε3ε3	No	Obsessive compulsive behavior	24/1	MRI: diffuse atrophy SPECT: ↓ perfusion in F & T	ND
PSEN2 V214L	Probably involved in disease (Youn et al^Citation18)	Female/54/ε3ε3	No	Memory loss, anomia	15/1	MRI: atrophy in med T FDG-PET: ND	tTau/Aβ42, 1.66; pTau181/Aβ42, 0.20

Abbreviations: EOAD, early-onset Alzheimer’s disease; AO, age at onset; bi, bilateral; CDR, clinical dementia rating; F, frontal; FDG-PET, fluorodeoxy glucose positron emission tomography; FH, family history; med, medial; met, metabolism; MMSE, mini-mental state examination; ND, not done; P, parietal; SPECT, single-photon emission computed tomography; T, temporal; MRI, magnetic resonance imaging; CSF, cerebrospinal fluid.

Figure 1 Genealogy tree of the EOAD patients with PSENl T1161 mutation. The symbols filled with black represent the patients with clinical Alzheimer’s disease, while the gray symbols correspond to the family members with mild cognitive impairment (MCI). The arrow indicates the proband being studied here. The history of dementia was not available in first generation of the genealogy tree.

Abbreviation: EOAD, early-onset Alzheimer’s disease.

La BellaVLiguoriMCittadellaRA novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer’s diseaseEur J Neurol200411852152415272895

 PubMed Web of Science ®Google Scholar

ZekanowskiCGolanMPKrzyśkoKANovel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessmentExp Neurol20062001828816546171

 PubMed Web of Science ®Google Scholar

BagyinszkyEParkSAKimHJChoiSHAnSSKimSYPSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in KoreaClin Interv Aging2016111433144027785004

 PubMed Web of Science ®Google Scholar

SleegersKRoksGTheunsJFamilial clustering and genetic risk for dementia in a genetically isolated Dutch populationBrain200412771641164915130954

 PubMed Web of Science ®Google Scholar

Ertekin-TanerNYounkinLHYagerDMPlasma amyloid beta protein is elevated in late-onset Alzheimer disease familiesNeurology200870859660617914065

 PubMed Web of Science ®Google Scholar

BrouwersNSleegersKVan BroeckhovenCMolecular genetics of Alzheimer’s disease: an updateAnn Med200840856258318608129

 PubMed Web of Science ®Google Scholar

YounYCBagyinszkyEKimHChoiBOAnSSKimSProbable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural predictionBMC Neurol20141410524885952

 PubMed Web of Science ®Google Scholar