Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis
Abstract
:1. Introduction
2. Methods
2.1. Subjects
2.2. Demographic and Clinical Data
2.3. Blood Collection and DNA Extraction
2.4. Polymerase Chain Reaction Analysis
2.5. Capillary Electrophoresis
2.6. Statistical Analysis
3. Results
3.1. Clinical Data
3.2. (GGC)n Expansion of NOTCH2NLC
3.3. Clinical Features
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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ALS Patients | Healthy Controls | |
---|---|---|
Total | 476 | 210 |
Male | 324 (68.07%) | 120 (57.14%) |
Female | 152 (31.93%) | 90 (42.86%) |
Age at onset | ||
Mean ± SD | 53.21 ± 11.66 | 52.58 ± 11.73 a |
Site of onset | ||
Bulbar | 87 (18.2%) | - |
Spinal | 389 (81.7%) | - |
Patient.No | Gender | Onset Age (y) | Site of Onset | Diagnosis Delay (mo) | Duration of Disease (mo) | ALS-FRS | NOTCH2NLC Repeat Size |
---|---|---|---|---|---|---|---|
1 | male | 50 | Right lower limb | 30 | 35 | 34 | 46 |
2 | female | 62 | bilateral upper limbs | 6 | 30 | 40 | 45 |
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Wan, M.; He, J.; Huo, J.; Sun, C.; Fu, Y.; Fan, D. Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis. Brain Sci. 2023, 13, 85. https://doi.org/10.3390/brainsci13010085
Wan M, He J, Huo J, Sun C, Fu Y, Fan D. Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis. Brain Sciences. 2023; 13(1):85. https://doi.org/10.3390/brainsci13010085
Chicago/Turabian StyleWan, Mengxia, Ji He, Junyan Huo, Can Sun, Yu Fu, and Dongsheng Fan. 2023. "Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis" Brain Sciences 13, no. 1: 85. https://doi.org/10.3390/brainsci13010085
APA StyleWan, M., He, J., Huo, J., Sun, C., Fu, Y., & Fan, D. (2023). Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis. Brain Sciences, 13(1), 85. https://doi.org/10.3390/brainsci13010085