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Diffusion Tensor Imaging and Fiber Tractography Analysis in Patients with Pelizaeus-Merzbacher Disease
Hacı Ali Erdoğan1, Alp Dinçer2, Pınar Topaloğlu3
1Bakırköy Dr. Sadi Konuk Training and Research Hospital, Department of Neurology Istanbul, Türkiye.
Noro Psikiyatri Arsivi
|March 4, 2026
Summary
Pelizaeus-Merzbacher Disease (PMD) involves white matter abnormalities, as shown by diffusion tensor imaging-fiber tractography (DTI-FT). Reduced fractional anisotropy in the corticospinal tract correlates with disease severity in PMD patients.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Pelizaeus-Merzbacher Disease (PMD) is an X-linked hypomyelinating disorder caused by PLP1 gene mutations.
- Clinical presentation includes tremor, nystagmus, developmental delay, and spasticity.
Purpose of the Study:
- To investigate the relationship between DTI-FT findings and clinical/pathogenetic features in PMD.
- To assess white matter structural differences in PMD patients using advanced imaging techniques.
Main Methods:
- Nineteen PMD patients and 19 controls underwent 3 Tesla MRI, DTI, and FT.
- Regions of interest were defined in key white matter tracts, including the corticospinal tract.
- Mean fractional anisotropy (FA) values were calculated and compared between groups.
Main Results:
- Significant differences in FA values were observed in multiple white matter tracts between PMD patients and controls.
- PMD patients exhibited significantly reduced FA values, indicating white matter involvement.
- Severe disabilities in PMD patients correlated with markedly reduced FA values in the corticospinal tract.
Conclusions:
- DTI-FT reveals predominantly white matter involvement in PMD.
- Corticospinal tract FA values may serve as a biomarker for PMD disease severity.
- DTI-FT offers a non-invasive method to understand structural changes in PMD.
