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

• المؤلفون الرئيسيون: 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.
• مؤلفون آخرون: Lee Kong Chian School of Medicine (LKCMedicine)
• التنسيق: مقال
• اللغة: English
• منشور في: 2021
• الموضوعات: Science::Medicine; Familial Frontotemporal Dementia; Novel Mutation
• الوصول للمادة أونلاين: https://hdl.handle.net/10356/152052

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,...