High diagnostic utility incorporating a targeted neurodegeneration gene panel with MRI brain diagnostic algorithms in patients with young-onset cognitive impairment with leukodystrophy

• Main Authors: Chen, Zhiyong, Tan, Yi Jayne, Lian, Michelle Mulan, Tandiono, Moses, Foo, Jia Nee, Lim, Weng Khong, Kandiah, Nagaendran, Tan, Eng-King, Ng, Adeline S. L.
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Medicine; Leukoencephalopathies; Exome Sequencing
• Online Access: https://hdl.handle.net/10356/152048
• Institution: Nanyang Technological University

Leukodystrophies are a diverse group of genetic disorders that selectively involve the white matter of the brain and are a frequent cause of young-onset cognitive impairment. Genetic diagnosis is challenging. Data on the utility of incorporating brain magnetic resonance imaging (MRI) diagnostic algo...