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Very early‐onset familial Alzheimer's disease: a novel presenilin 1 mutation
Author(s) -
Goldman Jill S.,
Reed Bruce,
Gearhart Rosalie,
Kramer Joel H.,
Miller Bruce L.
Publication year - 2002
Publication title -
international journal of geriatric psychiatry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.28
H-Index - 129
eISSN - 1099-1166
pISSN - 0885-6230
DOI - 10.1002/gps.657
Subject(s) - proband , prodrome , presenilin , disease , mutation , age of onset , alzheimer's disease , early onset alzheimer's disease , medicine , family history , genetics , psychosis , biology , gene , psychiatry
Background Early‐onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable. Objectives The aim of this report is to describe a novel PS1 mutation believed to be causal for a very early onset of AD. Methods This is a case history using information from medical records, relative interviews and genetic testing results to describe the pre‐clinical prodrome and clinical course of a patient with EOFAD. Results A previously undescribed G206V mutation in PS1 was found in the proband. Conclusion The G206V mutation in PS1 is probably causal of a case of EOFAD with significant premorbid features. Copyright © 2002 John Wiley & Sons, Ltd.