Molecular and Genetic Medicine

ISSN: 1747-0862

Open Access

Shi Y


  • Case Report
    Clinical and Genetic Analysis of Early-Onset Alzheimer's Disease in Two Chinese Han Families with Presenilin-1 Mutations
    Author(s): Ren Z, Xia M, Chen Z, Shi Y, Ma Q, Bai Y and Zhang JRen Z, Xia M, Chen Z, Shi Y, Ma Q, Bai Y and Zhang J

    Alzheimer’s disease is an autosomal dominant neurodegenerative disease manifested by core symptoms of cognitive decline and memory impairment. This progressive disorder with an insidious onset typically appears in older individuals, but may also affect young people, even in their 30s. It is well established that mutations in amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) cause Alzheimer’s disease. PSEN1 mutation is more common in Familial Alzheimer’s disease compared with PSEN2 and APP. Two patients fulfilling the NINCDS-ADRDA criteria for probable and definite Alzheimer’s disease were assessed. Two PSEN1 mutations (p.L392P and p.M233L) were identified from 2 probable early-onset familial Alzheimer’s disease (EOFAD) families, respectively. The p.L392P and p.M233L mutations were associated with prominent early onset, rapidly.. Read More»

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