IP Indian Journal of Neurosciences


A rare presentation of Presenilin 1(PSEN 1) Mutation


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Author Details: Jithin Raj. P*,Shaji CV,Kabeer KA,Prasanth SR,Nikhil Gladson

Volume : 5

Issue : 1

Online ISSN : 2581-916X

Print ISSN : 2581-8236

Article First Page : 35

Article End Page : 37


Abstract

Introduction: Presnilin1 (PSEN 1) mutation is a rare mutation which is most commonly associated with the early onset Alzheimer's disease. But it is also mutated in many other conditions which involve the neurological and the extraneurological systems.
Case report: 38 year old lady with a family history of cognitive, pyramidal and extrapyramidal involvement for her father and paternal grandmother coming with slowly progressive involvement of the cognitive spectrum with the pyramidal and extrapyramidal involvement. Her neuroimaging was showing only non specific changes like cortical atrophy. But her genetic study was found to be positive for Presnilin1 (PSEN1) mutation.

Keywords: Presenilin1, Early onset Alzheimer's disease, Cognitive, Pyramidal and extrapyramidal.