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Early-onset autosomal dominant Alzheimer disease

MedGen UID:: 448010
•Concept ID:: CN043596
•: Disease or Syndrome

Synonym:	Early-Onset Familial Alzheimer Disease
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	PSEN2, PSEN1, PLAU, NOS3, MPO, APP, APOE

Monarch Initiative:	MONDO:0015140
Orphanet:	ORPHA1020

Definition

Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAlzheimer disease
- CROGVAlzheimer disease 2
- CROGVAlzheimer disease 6
- CROGVAlzheimer disease 7
- CROGVAlzheimer disease 8
- CROGVAlzheimer disease 9
- CROGVAlzheimer disease 10
- CROGVAlzheimer disease 11
- CROGVAlzheimer disease 12
- CROGVAlzheimer disease 13
- CROGVAlzheimer disease 14
- CROGVAlzheimer disease 16
- CROGVAlzheimer disease without neurofibrillary tangles
- CROGVEarly-onset autosomal dominant Alzheimer disease

Disorder by Site
- Disorder of nervous system
  - Disorder of the central nervous system
    - Brain disorder
      - Dementia
        Alzheimer disease
        Early-onset autosomal dominant Alzheimer disease
        Alzheimer disease 3
        Alzheimer disease 4
        Alzheimer disease type 1

Professional guidelines

PubMed

Impact of gene patents and licensing practices on access to genetic testing for Alzheimer disease.

Skeehan K, Heaney C, Cook-Deegan R
Genet Med 2010 Apr;12(4 Suppl):S71-82. doi: 10.1097/GIM.0b013e3181d5a68e. PMID: 20393312 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Impact of gene patents and licensing practices on access to genetic testing for Alzheimer disease.

Skeehan K, Heaney C, Cook-Deegan R
Genet Med 2010 Apr;12(4 Suppl):S71-82. doi: 10.1097/GIM.0b013e3181d5a68e. PMID: 20393312 Free PMC Article

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T
Am J Hum Genet 1999 Sep;65(3):664-70. doi: 10.1086/302553. PMID: 10441572 Free PMC Article

See all (2)

Diagnosis

Multimodal Imaging in a Patient With Alzheimer Disease and Parkinsonism Because of a Presenilin-1 Mutation.

Lu JY, Sun YM, Yen TC, Zuo CT, Wang J
Clin Nucl Med 2021 Sep 1;46(9):e483-e484. doi: 10.1097/RLU.0000000000003674. PMID: 33883498

Impact of gene patents and licensing practices on access to genetic testing for Alzheimer disease.

Skeehan K, Heaney C, Cook-Deegan R
Genet Med 2010 Apr;12(4 Suppl):S71-82. doi: 10.1097/GIM.0b013e3181d5a68e. PMID: 20393312 Free PMC Article

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

See all (3)

Prognosis

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.

Ezquerra M, Lleó A, Castellví M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R
Arch Neurol 2003 Aug;60(8):1149-51. doi: 10.1001/archneur.60.8.1149. PMID: 12925374

See all (1)

Clinical prediction guides

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.

Ezquerra M, Lleó A, Castellví M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R
Arch Neurol 2003 Aug;60(8):1149-51. doi: 10.1001/archneur.60.8.1149. PMID: 12925374

See all (1)

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Early-onset autosomal dominant Alzheimer disease

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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