Objective: To use transcranial sonography (TCS) to detect striatal and substantia nigra abnormalities in patients with X-linked dystonia-parkinsonism syndrome (XDP), non-manifesting carriers (NMC) of the XDP-causing variant, and healthy controls (HC).
Background: XDP is a neurodegenerative genetic disorder that primarily affects men of Filipino descent. The first symptoms are often dystonia, followed by parkinsonism due to progressive striatal neurodegeneration.
Method: Hyperechogenicity of the lentiform nucleus (LN+), the size of substantia nigra hyperechogenicity, and widths of the lateral and third ventricles were assessed in 138 participants (61 patients with XDP, 19 NMC, and 58 HC). LN+ was correlated with LN volume derived from T1-weighted MRI. The number of hexamer repeats within the causative insertion and three other genetic modifir of the age at onset were analyzed as potential modifiers of LN+.
Results: In patients with XDP and NMC, the prevalence of LN+ was higher compared to HC. In both NMC and XDP showing LN+, the estimated age of onset was younger and the number of repeats was higher. There was no group differences in the size of substantia nigra hyperechogenicity or in lateral ventricle width. The third ventricle width was wider in patients with XDP and its width correlated with age at examination and disease duration. The LN volume derived from MRI was greater in HC than in NMC and XDP. There were no volume differences between LN+ and LN-.
Conclusion: LN+ is more frequent in patients with XDP and is already detectable several years before the onset of symptoms in NMC, particularly in those with a high genetic modifier load. Longitudinal studies are needed to clarify the temporal relationship between symptom onset and LN+ and to further characterize differences between patients with and without LN+.
To cite this abstract in AMA style:
M. Pauly, C. Diesta, P. Cataniag, M. Borsche, H. Hanssen, J. Ong, JQ. Oropilla, U. Walter, D. Dressler, S. Algodon, A. Westenberger, C. Klein, N. Brüggemann. Trancranial Sonography Reveals Striatal Neurodegeneration in the Prodromal Phase of X-linked Dystonia-Parkinsonism [abstract]. Mov Disord. 2026; 41 (suppl 1). https://www.mdsabstracts.org/abstract/trancranial-sonography-reveals-striatal-neurodegeneration-in-the-prodromal-phase-of-x-linked-dystonia-parkinsonism/. Accessed October 1, 2026.« Back to 2026 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/trancranial-sonography-reveals-striatal-neurodegeneration-in-the-prodromal-phase-of-x-linked-dystonia-parkinsonism/