The Patterns of Inheritance in Early-Onset Dementia: Alzheimer's Disease and Frontotemporal Dementia

被引：51

作者：

Jarmolowicz, Anna I. ^{[1
]}

Chen, Huei-Yang ^{[1
]}

Panegyres, Peter K. ^{[1
]}

机构：

[1] Neurodegenerat Disorders Res Pty Ltd, Perth 6005, Australia

来源：

AMERICAN JOURNAL OF ALZHEIMERS DISEASE AND OTHER DEMENTIAS | 2015年 / 30卷 / 03期

关键词：

early onset dementia; family history; genes and dementia; Alzheimer's disease; frontotemporal dementia; AMYLOID PRECURSOR PROTEIN; DIAGNOSTIC-CRITERIA; LOBAR DEGENERATION; GENETICS; MUTATIONS; PREVALENCE; CONSENSUS; DYSFUNCTION; GUIDELINES; FREQUENCY;

D O I：

10.1177/1533317514545825

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Aim: To investigate the patterns of inheritance and gene mutation status in early-onset dementia (EOD). Methods: Data were collected on 202 consecutive patients presenting to an EOD clinic. Early-onset Alzheimer's disease (EOAD, n = 120) and early-onset frontotemporal dementia (EOFTD, n = 82) were studied. Results: The majority of participants, 72.5% with EOAD and 74.4% with EOFTD, did not have a positive family history of dementia. An autosomal dominant pattern of inheritance was observed in 14.2% of patients with EOAD and 13.4% of patients with FTD. Of those with an autosomal dominant pattern of inheritance, 11.8% of EOAD and 45.5% of FTD probands had known pathogenic mutations. Only 1.6% of the total population of EOAD and 7.3% of EOFTD possessed known gene mutations. Conclusion: Early-onset dementia does not appear to be a strongly inherited autosomal dominant condition. The majority of patients were sporadic. Known mutations were uncommon and do not explain the total autosomal dominant burden.

引用

页码：299 / 306

页数：8

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