P3-092: IPSC MODELING OF PSEN1 MUTATION IN ALZHEIMER'S DISEASE WITH CEREBELLAR ATAXIA
نویسندگان
چکیده
منابع مشابه
Subclinical celiac disease with cerebellar ataxia.
We report an unusual case of celiac disease with cerebellar ataxia. Gastrointestinal signs and malabsorption were not found in this patient. We suggested that celiac disease should be taken into consideration in differential diagnosis of patients with cerebellar ataxia with unknown etiology.
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Presenilin 1 (PSEN1) encodes the catalytic subunit of γ-secretase, and PSEN1 mutations are the most common cause of early onset familial Alzheimer's disease (FAD). In order to elucidate pathways downstream of PSEN1, we characterized neural progenitor cells (NPCs) derived from FAD mutant PSEN1 subjects. Thus, we generated induced pluripotent stem cells (iPSCs) from affected and unaffected indivi...
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ژورنال
عنوان ژورنال: Alzheimer's & Dementia
سال: 2019
ISSN: 1552-5260
DOI: 10.1016/j.jalz.2019.06.3119