Primary degenerative dementia of the Alzheimer type in twins: Initial findings from the Maudsley Hospital Twin Register

Karlinsky, Harry; Macdonald, Alison M.; Berg, J. M.

doi:10.1002/gps.930070811

Cited by 7 publications

(4 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… Stage II: algorithm for AD or VD (based on DSM-IV, NINCDS-ADRDA, NINDS-AIREN, NICE & SIGN). Yes 9 Karlinsky et al [ 60 ] AD in twins Outcome Full Hospital twin register, hospital case notes Stage I: discharge diagnosis suggestive of dementia on register, Stage II: case note diagnosis of AD according to DSM-III-R criteria. No 10 Keenan et al [ 29 ] Glaucoma and AD/ VD Both Full Hospital Episode Statistics ICD-10 diagnostic code for AD or VD.…”

Section: Resultsmentioning

confidence: 99%

Dementia ascertainment using existing data in UK longitudinal and cohort studies: a systematic review of methodology

et al. 2017

View full text Add to dashboard Cite

BackgroundStudies investigating the risk factors for or causation of dementia must consider subjects prior to disease onset. To overcome the limitations of prospective studies and self-reported recall of information, the use of existing data is key. This review provides a narrative account of dementia ascertainment methods using sources of existing data.MethodsThe literature search was performed using: MEDLINE, EMBASE, PsychInfo and Web of Science. Included articles reported a UK-based study of dementia in which cases were ascertained using existing data. Existing data included that which was routinely collected and that which was collected for previous research. After removing duplicates, abstracts were screened and the remaining articles were included for full-text review. A quality tool was used to evaluate the description of the ascertainment methodology.ResultsOf the 3545 abstracts screened, 360 articles were selected for full-text review. 47 articles were included for final consideration. Data sources for ascertainment included: death records, national datasets, research databases and hospital records among others. 36 articles used existing data alone for ascertainment, of which 27 used only a single data source. The most frequently used source was a research database. Quality scores ranged from 7/16 to 16/16. Quality scores were better for articles with dementia ascertainment as an outcome. Some papers performed validation studies of dementia ascertainment and most indicated that observed rates of dementia were lower than expected.ConclusionsWe identified a lack of consistency in dementia ascertainment methodology using existing data. With no data source identified as a “gold-standard”, we suggest the use of multiple sources. Where possible, studies should access records with evidence to confirm the diagnosis. Studies should also calculate the dementia ascertainment rate for the population being studied to enable a comparison with an expected rate.Electronic supplementary materialThe online version of this article (doi:10.1186/s12888-017-1401-4) contains supplementary material, which is available to authorized users.

show abstract

Section: Resultsmentioning

confidence: 99%

Dementia ascertainment using existing data in UK longitudinal and cohort studies: a systematic review of methodology

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Case reports of single pairs tend to be biased to reporting of concordant monozygosity. Expectations that a disease is genetic, based on occasional reports of monozygosity concordant for severe disease, typically turn out to have a more modest genetic component when epidemiologically sound twin or family studies are conducted 22,23 .…”

Section: Discussionmentioning

confidence: 99%

Twin mothers, pregnancy hypertension and pre‐eclampsia

Thornton

Macdonald

1999

BJOG

View full text Add to dashboard Cite

Objective To estimate the maternal genetic contribution to the hypertensive diseases of pregnancy.Design A cohort study of female twins with information on hypertensive diseases of pregnancy obtained by questionnaire screening, and verification of diagnosis from hospital or general practitioner records.Setting A volunteer twin registry in the UK with recruitment through the media without reference to pregnancies or disease status.Population Adult female, same-sex twin pairs who completed a pregnancy history questionnaire and consented to record inspection.Main outcome measure Self-reported and hospital-validated diagnosis of non-proteinuric pregnancy hypertension and of pregnancy hypertension with proteinuria (pre-eclampsia).Results Self-reported pre-eclampsia had a heritability of 0.221 and non-proteinuric hypertension of 0.198. However, none of the pairs who were self-reported as concordant for pre-eclampsia were confirmed from hospital records. Using hospital records, the heritability of pre-eclampsia was 0 and 0.375 for non-proteinuric hypertension. Using a model treating pre-eclampsia as a separate disease from non-proteinuric hypertension, and assuming that the next pair identified was both monozygotic and concordant for pre-eclampsia, the estimated heritability of pre-eclampsia remained 0 (95% CI 0-0-49). Using a threshold model in which non-proteinuric hypertension is treated as a mild form of pre-eclampsia, heritability is estimated at 0.247 (95% CI 0.234454). ConclusionNeither non-proteinuric hypertension nor pre-eclampsia are inherited in simple Mendelian fashion. The genetic contribution to multi-factorial inheritance is smaller than hitherto believed.

show abstract

“…Interesting recent work has emerged using the twin method to study ageing and dementia (Harris, 2003), with contributions from the Swedish Adoption/Twin Study of Aging (SATSA) (Lichtenstein et al, 2002), the Danish Twin Study (Christensen et al, 1999), the NAS-NRC Twin Registry (DeCarli et al, 1999), the Minnesota Twin Study of Adult Development and Ageing (MTSADA) (Finkel et al, 1995) and others (Barak et al, 2003;Karlinsky et al, 1992).…”

Section: Introductionmentioning

confidence: 99%

The contribution of twins to the study of cognitive ageing and dementia: The Older Australian Twins Study

Sachdev

Lee

Wang

et al. 2013

International Review of Psychiatry

View full text Add to dashboard Cite

The Older Australian Twins Study (OATS) is a major longitudinal study of twins, aged ≥ 65 years, to investigate genetic and environmental factors and their interactions in healthy brain ageing and neurocognitive disorders. The study collects psychiatric, neuropsychological, cardiovascular, metabolic, biochemical, neuroimaging, genomic and proteomic data, with two-yearly assessments, and is currently in its third wave. The initial cohort comprises 623 individuals (161 monozygotic and 124 dizygotic twin pairs; 1 MZ triplets; 27 single twins and 23 non-twin siblings), of whom 426 have had wave 2 assessment. A number of salient findings have emerged thus far which assist in the understanding of genetic contributions to cognitive functions such as processing speed, executive ability and episodic memory, and which support the brain reserve hypothesis. The heritability of brain structures, both cortical and subcortical, brain spectroscopic metabolites and markers of small vessel disease, such as lacunar infarction and white matter hyperintensities, have been examined and can inform future genetic investigations. Work on amyloid imaging and functional magnetic resonance imaging is proceeding and epigenetic studies are progressing. This internationally important study has the potential to inform research into cognitive ageing in the future, and offers an excellent resource for collaborative work.

show abstract

Primary degenerative dementia of the Alzheimer type in twins: Initial findings from the Maudsley Hospital Twin Register

Cited by 7 publications

References 41 publications

Dementia ascertainment using existing data in UK longitudinal and cohort studies: a systematic review of methodology

Dementia ascertainment using existing data in UK longitudinal and cohort studies: a systematic review of methodology

Twin mothers, pregnancy hypertension and pre‐eclampsia

The contribution of twins to the study of cognitive ageing and dementia: The Older Australian Twins Study

Contact Info

Product

Resources

About