APP gene mutations in familial Alzheimer’s disease

APP gene mutations in familial Alzheimer's disease

Kenji Wada-Isoe¹⁾, Hajime Miyata²⁾, Takenobu Murakami¹⁾, Kenji Nakashima¹⁾

Department of Neurology, Institute of Neurological Science, Faculty of Medicine, Tottori University

The discovery of amyloid precursor protein (APP) gene mutations in familial Alzheimer's disease (AD) provided a great progress in the field of Alzheimer research. Moreover, novel APP gene mutations, such as APP gene duplication or APP mutations within amyloid beta sequence are now reported by researchers. Here, we review the clinicopathological features of FAD patients with APP mutations and the neurodegenerative process of APP gene mutations. We also introduce clinicopathological features of APP gene mutations within the amyloid beta sequence (D678N), discovered in Tottori Prefecture.

Address correspondence to Dr. Kenji Wada-Isoe, Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University (36-1 Nishi-cho, Yonago, Tottori 683-8504, Japan)