Heritability of cervical spinal cord structure

Neurol Genet, 2020 · DOI: 10.1212/NXG.0000000000000401 · Published: April 1, 2020

Simple Explanation

This study investigates how much of the structure of the spinal cord is determined by genetics, similar to how height or eye color are inherited. The researchers looked at twins to see if identical twins (who share all their genes) had more similar spinal cords than fraternal twins (who share about half their genes). They found that the size and shape of the spinal cord in the neck area (cervical region) are indeed strongly influenced by genetics.

Study Duration

Not specified

Participants

332 participants (analyzed C2 CSA, LRW, and APW), final sample n = 283

Evidence Level

Observational study, twin study

Key Findings

1
The spinal cord C2 cross-sectional area (CSA), left-right width (LRW), and anterior-posterior width (APW) are highly heritable (85%–91%).
2
All measures were highly correlated with the brain volume.
3
The subjects’ sex signiﬁcantly inﬂuenced these metrics.

Research Summary

This study provides evidence of genetic influence on spinal cord structure, showing that MRI metrics of cervical spinal cord anatomy are robust and not easily influenced by nonpathological environmental factors. The study found that the spinal cord C2 cross-sectional area (CSA), left-right width (LRW), and anterior-posterior width (APW) are highly heritable (85%–91%). These findings suggest that these metrics can be useful for monitoring normal development and progression of neurodegenerative disorders affecting the spinal cord, such as spinal cord injury and MS.

Practical Implications

Monitoring Disease Progression

MRI metrics of cervical spinal cord anatomy can be used to monitor the progression of neurodegenerative disorders affecting the spinal cord.

Understanding CNS Development

Determining factors that contribute to variations in spinal cord structure in healthy individuals adds to our understanding of the CNS.

Potential Biomarkers

The spinal cord metrics could serve as potential biomarkers for spinal cord health and disease.

Study Limitations

1
The narrow age range in the HCP young adult sample limited the evaluation of age effects.
2
The study is susceptible to partial volume effects due to the relatively small size of the spinal cord.
3
The E term in the AE model also absorbs variation that arises from measurement error and individual day-to-day ﬂuctuations.

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