Interfamilial and intrafamilial phenotypic heterogeneity in familial Alzheimer's disease

Roberto Lopez Alberola, Warren W. Barker, Dylan G. Harwood, David Loewenstein, Peter H. St. George-Hyslop, Takehide Tsuda, Evgeny A. Rogaeva, Ranjan Duara

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

The features of Alzheimer's disease (AD) are very heterogenous, and some component of the variability of AD is likely to be related to genetic factors. To investigate this question, we evaluated 19 clinical neuropsychiatric and brain imaging features in 32 familial Alzheimer's disease (FAD) kindred, primarily of late onset. Within families, patients displayed a high degree of phenotypic heterogeneity (PH), which occurred irrespective of gender, ethnicity, or apolipoprotein E genotype. Overall, an equivalent amount of PH was observed in both the between- (37%) and within-family (31%) groups. However, for onset age and rate of decline between families, there was greater PH than within families (P = .002 and P = .01, respectively). A similar trend was found for severity of cortical atrophy (P = .05). These observations suggest a weak genetic influence, and possibly strong nongenetic influences, on the degree of phenotypic heterogeneity in late-onset FAD. In early-onset AD kindred, a much smaller degree of phenotypic heterogeneity may be expected within families, because genetic influences in phenotypic expression tend to be more prominent in early-onset cases.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalJournal of Geriatric Psychiatry and Neurology
Volume10
Issue number1
StatePublished - Jan 1 1997

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Alzheimer Disease
Apolipoproteins E
Age of Onset
Neuroimaging
Atrophy
Genotype

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Geriatrics and Gerontology
  • Neuroscience(all)

Cite this

Interfamilial and intrafamilial phenotypic heterogeneity in familial Alzheimer's disease. / Lopez Alberola, Roberto; Barker, Warren W.; Harwood, Dylan G.; Loewenstein, David; St. George-Hyslop, Peter H.; Tsuda, Takehide; Rogaeva, Evgeny A.; Duara, Ranjan.

In: Journal of Geriatric Psychiatry and Neurology, Vol. 10, No. 1, 01.01.1997, p. 1-6.

Research output: Contribution to journalArticle

Lopez Alberola, R, Barker, WW, Harwood, DG, Loewenstein, D, St. George-Hyslop, PH, Tsuda, T, Rogaeva, EA & Duara, R 1997, 'Interfamilial and intrafamilial phenotypic heterogeneity in familial Alzheimer's disease', Journal of Geriatric Psychiatry and Neurology, vol. 10, no. 1, pp. 1-6.
Lopez Alberola, Roberto ; Barker, Warren W. ; Harwood, Dylan G. ; Loewenstein, David ; St. George-Hyslop, Peter H. ; Tsuda, Takehide ; Rogaeva, Evgeny A. ; Duara, Ranjan. / Interfamilial and intrafamilial phenotypic heterogeneity in familial Alzheimer's disease. In: Journal of Geriatric Psychiatry and Neurology. 1997 ; Vol. 10, No. 1. pp. 1-6.
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AU - Rogaeva, Evgeny A.

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