A Family with Multiple Instances of Definite, Probable and Possible Early-Onset Alzheimer's Disease

A family with a multigenerational history of proven or suspected early-onset Alzheimer's disease (AD) consistent with autosomal-dominant inheritance is described. To date, the pedigree comprises five generations in which there are 13 known affected individuals. The mean age of onset of cognitive deficits in those for whom data are available (n = 11) is 47.6 (s.d. 3.0) years and the mean age of death (n = 10) is 58.8 (s.d. 4.0) years. The variability in the extent and quality of available data illustrates the diagnostic difficulties encountered in ascertaining such an extended pedigree, and the need for caution in interpreting the evidence.

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Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia

Neurobiology of Aging ◽

10.1016/j.neurobiolaging.2017.04.012 ◽

2017 ◽

Vol 56 ◽

pp. 212.e11-212.e17 ◽

Cited By ~ 7

Author(s):

Jiyun Park ◽

Seong Soo A. An ◽

Vo Van Giau ◽

Kyuhwan Shim ◽

Young Chul Youn ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Family History ◽

Early Onset ◽

Korean Patient ◽

Psen1 Mutation ◽

History Of ◽

Early Onset Alzheimer’S Disease

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Evidence for Allelic Heterogeneity in Familial Early-Onset Alzheimer's Disease

The British Journal of Psychiatry ◽

10.1192/bjp.158.4.471 ◽

1991 ◽

Vol 158 (4) ◽

pp. 471-474 ◽

Cited By ~ 18

Author(s):

Cornelia M. Van Duijn ◽

Christine Van Broeckhoven ◽

John A. Hardy ◽

Alison M. Goate ◽

Martin N. Rossor ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Epidemiological Study ◽

Genetic Counselling ◽

Early Onset ◽

Age Of Onset ◽

Population Based ◽

Chromosome 21 ◽

Allelic Heterogeneity ◽

Early Onset Alzheimer’S Disease

Age of onset was examined for 139 members of 30 families affected by early-onset AD. Most (77%) of the variance of age of onset derived from differences between rather than within families. The constancy of age of onset within families was also observed in an analysis restricted to families derived from a population-based epidemiological study with complete ascertainment of early-onset AD. Furthermore, we observed clustering of age of onset within those families that support linkage to the predisposing locus on chromosome 21. Our data are compatible with the view that allelic heterogeneity at the AD locus may account for the similarity in age of onset within families. This finding may be of value for scientific studies of AD as well as for genetic counselling.

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How Should Clinicians Counsel a Woman with a Strong Family History of Early-Onset Alzheimer's Disease about Her Pregnancy?

The AMA Journal of Ethic ◽

10.1001/journalofethics.2017.19.7.ecas4-1707 ◽

2017 ◽

Vol 19 (7) ◽

pp. 663-674 ◽

Cited By ~ 1

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Family History ◽

Early Onset ◽

Strong Family History ◽

History Of ◽

Early Onset Alzheimer’S Disease

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Early onset Alzheimer’s disease

Oxford Textbook of Neurologic and Neuropsychiatric Epidemiology ◽

10.1093/med/9780198749493.003.0009 ◽

2020 ◽

pp. 75-82

Author(s):

Ratnavalli Ellajosyula

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Age Of Onset ◽

Late Onset ◽

Geographical Location ◽

Epidemiological Studies ◽

Incidence Rates ◽

Prevalence Rates ◽

Early Onset Alzheimer’S Disease

The term ‘early onset Alzheimer’s disease’ (EOAD) is used when symptoms of Alzheimer’s disease (AD) occur in patients younger than 65 years. EOAD is an uncommon condition and data on epidemiology is limited. Prevalence rates range from 15 to 200 and incidence rates 2.4–22.6 per 100,000 population. Prevalence rates increase with age similar to that for late onset AD. The prevalence of autosomal dominant EOAD is 5.2 per 100,000. Half of these patients have an underlying mutation in amyloid precursor protein, presenilin 1 or 2 genes. Apolipoprotein E genotype is a risk factor for EOAD and homozygotes have an earlier age of onset. Methodological issues and geographical location make comparisons across epidemiological studies difficult. Further cross-national and cross-cultural studies with standardized methodology are necessary to understand the role of risk and protective factors, as well as to estimate the burden of the disease.

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Age of onset in familial early onset Alzheimer's disease correlates with genetic aetiology

American Journal of Medical Genetics ◽

10.1002/ajmg.1320480303 ◽

1993 ◽

Vol 48 (3) ◽

pp. 129-130 ◽

Cited By ~ 29

Author(s):

Michael Mullan ◽

Henry Houlden ◽

Fiona Crawford ◽

Angus Kennedy ◽

Penelope Rogues ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Age Of Onset ◽

Early Onset Alzheimer’S Disease

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Smell identification function in early-onset Alzheimer’s disease and mild cognitive impairment

International Psychogeriatrics ◽

10.1017/s1041610218001503 ◽

2018 ◽

Vol 31 (07) ◽

pp. 1065-1070 ◽

Cited By ~ 2

Author(s):

Latha Velayudhan ◽

Frances Wilson-Morkeh ◽

Emily Penney ◽

Amala Jovia Maria Jesu ◽

Sarah Baillon ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Cognitive Impairment ◽

Mild Cognitive Impairment ◽

Early Onset ◽

Age Of Onset ◽

Disease Process ◽

Convenience Sample ◽

Early Onset Alzheimer’S Disease ◽

Smell Identification

ABSTRACTLittle is known about olfactory identification (OI) function in early-onset Alzheimer’s disease (EOAD) and early-onset mild cognitive impairment (eoMCI) with age of onset <65 years. We aimed to study OI in EOAD compared with eoMCI and age-matched healthy controls (HC). Nineteen EOAD subjects with mild to moderate dementia, 17 with eoMCI, and 21 HC recruited as a convenience sample from memory services were assessed for cognition, behavioral symptoms, and activities for daily living. The OI was tested using the University of Pennsylvania smell identification test (UPSIT). EOAD participants performed worse compared with eoMCI and HC on cognitive tests and OI (p < 0.001). Although eoMCI had poorer cognitive scores compared to HC, they were similar in their OI function. OI correlated with attention (r = 0.494, p = 0.031), executive functions (r = 0.508, p = 0.026), and praxis (r = 0.455, p = 0.05) within the EOAD group. OI impairment was significantly associated with the diagnosis of EOAD versus eoMCI, but not with eoMCI when compared with HC. OI could potentially be useful in differentiating EOAD from eoMCI. Studies with late-life MCI patients showing OI impairment relative to HC may be attributed to a different disease process. Independent replication in a larger sample is needed to validate these findings.

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