Early-onset familial Alzheimer's disease, PSEN1 mutation

Case contributed by Dr Chee Kok Yoon


A lady with strong family history of Alzheimer's disease (more than 2 first-degree relatives), developed progressive memory decline since early 50's and subsequently spastic paraparesis and myoclonus. MMSE was 14/30 and NuCOG could not be completed 1 year after she achieved the last MMSE score. PSEN1 mutation was found.

Patient Data

Age: 55
Gender: Female

Bilateral hippocampi atrophy.  Brain sulci and ventricles are more prominent than expected for age. 

Case Discussion

Due to the neurological presentation, differential diagnosis of FTD was considered for quite some time. AD was not considered as the provisional diagnosis in the beginning by geriatrician and old age psychiatrist due to the unusual presentation of the illness and its association with neurological signs and symptoms. Final clinical diagnosis was made by both neurologist and neuropsychiatrist and later confirmed by genetic mutational analysis. She deteriorated rather fast and within 5 years she was not able to speak and also developed parkinsonian feature. 

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Case information

rID: 29341
Published: 12th Nov 2015
Last edited: 5th Sep 2017
Inclusion in quiz mode: Included

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