Abbreviation (ISO4): Chinese Journal of Alzheimer's Disease and Related Disorders
Editor in chief: Jun WANG
Chinese Journal of Alzheimer's Disease and Related Disorders >
A case report of a family with early-onset Alzheimer's disease
Received date: 2019-03-21
Revised date: 2019-04-08
Online published: 2019-09-25
Objective: To determine the genetic diagnosis of a family with early-onset familial Alzheimer's disease(EOFAD) and analyze its clinical phenotypic characteristics. Methods: A family were clinically evaluated at department of neurology, Xiangya hospital, Central South University. Definite EOFAD diagnosis were established by combining history, clinical manifestation, physical examination, laboratory tests, neuropsychological assessments, imaging. Meantime, we screened causative genes (PSEN1, PSEN2, APP) of Alzheimer's disease (AD) in this family with EOFAD. Results: In this family, there were 3 patients in total, 1 carrier. The proband displayed slow reaction initially, memory decline, and subsequently presented language expression disorder and personality change. Sanger sequencing showed that the proband carried missense mutation of PSEN1 gene (c. 604A> T, p. I202F). The mutation was isolated in the family and was not detected in 400 age, geographical ancestry matched normal controls and various databases. SIFT, Polyphen2, Mutation Taster and FATHMM predicted the pathogenicity of the mutation. Conclusion: We firstly reported the mutation of this locus in Han population. Our study expand the PSEN1 mutation spectrum and help to enrich the characterization of clinical phenotype in EOFAD associated to PSEN1 mutations. This case reminds us that the early onset AD patients with atypical clinical manifestation should be cautious in diagnosis to avoid misdiagnosis.
LI Chenping , ZHANG Weiwei , GUO Lina , TANG Beisha , JIAO Bin . A case report of a family with early-onset Alzheimer's disease[J]. Chinese Journal of Alzheimer's Disease and Related Disorders, 2019 , 2(3) : 420 -425 . DOI: 10.3969/j.issn.2096-5516.2019.03.006
表1 家系中部分患者和正常人的神经心理学评估得分 |
项目 | 11:1 | 11:3 | 11:4 | 11:5 | 11:6 | 11:7 | 11:8 |
---|---|---|---|---|---|---|---|
性别 | 男 | 男 | 女 | 女 | 男 | 男 | 女 |
年龄 | 59 | 54 | 51 | 50 | 43 | 41 | 38 |
是否患病 | 否 | 是 | 否 | 是 | 否 | 否 | 是 |
发病年龄 | —— | 48 | — | 45 | — | — | 36 |
MMSE | 26 | NA | 25 | 13 | 28 | 28 | 9 |
ADAS-cog | 6 | NA | 7 | 18 | 5 | 6 | 37 |
NPI | 0 | 12 | 0 | 8 | 0 | 0 | 6 |
语音流畅性 | 9 | NA | 9 | 6 | 9 | 9 | 3 |
语义流畅性 | 7 | NA | 8 | 8 | 9 | 7 | 1 |
波士顿命名 | 20 | 3 | 20 | 9 | 22 | 19 | 5 |
ADL | 20 | 30 | 20 | 28 | 20 | 20 | 36 |
CDR | 0 | 2 | 0 | 1 | 0 | 0 | 2 |
注:简明精神状态量表(MMSE),阿尔茨海默病认知行为量表(ADAS-cog),神经精神量表(NPI),日常生活能力量表(ADL),临床痴呆评定量表(CDR),NA(无法完成)。 |
[1] |
|
[2] |
|
[3] |
|
[4] |
|
[5] |
|
[6] |
|
[7] |
|
[8] |
|
[9] |
|
[10] |
|
[11] |
|
[12] |
|
[13] |
|
[14] |
|
[15] |
|
[16] |
|
[17] |
|
[18] |
|
/
〈 |
|
〉 |