Ontology highlight
ABSTRACT:
SUBMITTER: Bagyinszky E
PROVIDER: S-EPMC6164060 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Bagyinszky Eva E Lee Hye-Mi HM Van Giau Vo V Koh Seong-Beom SB Jeong Jee Hyang JH An Seong Soo A SSA Kim SangYun S
International journal of molecular sciences 20180902 9
An in depth study of <i>PSEN1</i> 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. <i>PSEN1</i> Thr116Ile was initially discovered in an Italian patient and two French families with early onset Alzheimer's disease (EOAD) with similar age of onset. To ver ...[more]