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KMID : 0960920030020010054
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Dementia and Neurocognitive Disorders
2003 Volume.2 No. 1 p.54 ~ p.57
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A Case of Early-Onset Familial Alzheimer’s Disease Accompanied by Myoclonus and Seizure
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An Seong-Gi
Lee Jae-Hong
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Abstract
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Early-onset familial Alzheimer’s disease (EOFAD) is rare and autosomal-dominantly inherited disease by mutations in one of the following three known causative genes: amyloid precursor protein (APP) gene, presenilin-1 (PS1) and presenilin-2 (PS2) genes. EOFAD tends to present clinically at a younger age (40-60 years) and myoclonus is recognized as a prominent and early clinical feature, particularly in chromosome 14-linked pedigrees with mutations in the PS1 gene, when myoclonus may be accompanied by seizures. We present a 44-year old man who developed progressive dementia and accompanied by myoclonus and recurrent seizure. His father and uncle had early-onset dementia at the fifth decade. He was pathologically confirmed as Alzheimer’s disease. He had apolipoprotein E (ApoE) epsilon 3 allele and PS-1 mutation was not found.
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KEYWORD
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Familial Alzheimer’s disease, Presenilin, Myoclonus
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