Novel optineurin frameshift insertion in a family with frontotemporal dementia and parkinsonism without amyotrophic lateral sclerosis

• Main Authors: Dominguez, Jacqueline, Yu, Jeryl Tan, Tan, Jayne Yi, Ng, Arlene, De Guzman, Ma Fe, Natividad, Boots, Daroy, Ma Luisa, Cano, Jemellee, Yu, Justine, Lian, Michelle Mulan, Zeng, Li, Lim, Weng Khong, Foo, Jia Nee, Ng, Adeline S. L.
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Medicine; Familial Frontotemporal Dementia; Novel Mutation
• Online Access: https://hdl.handle.net/10356/152052
• Institution: Nanyang Technological University

Frontotemporal Dementia (FTD) is a common cause of Young Onset Dementia and has diverse clinical manifestations involving behavior, executive function, language and motor function, including parkinsonism. Up to 50% of FTD patients report a positive family history, supporting a strong genetic basis,...