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Article

PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International journal of molecular sciences - 2 Sept 2018

Bagyinszky Eva, Lee Hye-Mi, Van Giau Vo, Koh Seong-Beom, Jeong Jee Hyang, An Seong Soo A, Kim SangYun

Abstract excerpt

An in depth study of PSEN1 mutation p.Thr116Ile (c.335C>T) is presented from two Korean families with autosomal dominant inheritance. Clinical manifestation of our patients included memory loss, attention deficits, visuospatial dysfunction, agnosia, aphasia, apraxia, and personality changes, which occurred in their 30s. PSEN1 Thr116Ile was initially discovered in an Italian patient and two French families with...

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Identifiers

PMID: 30200536
DOI: 10.3390/ijms19092604
PMCID: PMC6164060

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