Objective: To investigate whether focal dystonia is associated with altered structural age-related changes in the putamen compared to healthy controls and across dystonia subtypes.

Background: Neuroimaging studies implicate striatal dysfunction in dystonia pathophysiology, with inconsistent volumetric observations [1,2]. While normal aging causes progressive striatal volume loss [3], the relationship between aging and brain structure in dystonia remains poorly understood. This study builds upon our prior work identifying preservation of putamen volume in cervical dystonia (CD), extending investigation to multiple focal dystonia subtypes.

Method: We analyzed T1 and T2 structural MRI scans from 106 dystonia patients (groups: 37 CD, 23 adductor laryngeal, 20 cranial, 10 embouchure, 15 upper-limb) and 98 healthy controls. Manually refined FreeSurfer-derived [4] volumes of bilateral putamen, caudate, ventricles, hippocampus, and amygdala were corrected for intracranial volume. Hippocampus and amygdala served as control regions. As a surrogate for motion, participants with root mean square motion > 0.5 during functional BOLD acquisition were excluded. ANCOVA models tested for age × group interactions while controlling for sex and motion, with separate models for each dystonia subtype.

Results: ANCOVA revealed significant group × age interactions for putamen volumes between CD and controls (left: p=0.014; right: p=0.0003). Controls showed age-related decline bilaterally (left: β=-17.47, p<0.0001; right: β=-21.25, p<0.0001), while CD patients demonstrated preservation of putamen volumes (left: β=0.85, p=0.89; right: β=4.69, p=0.41). This pattern extended to total striatum (p=0.002). Both groups maintained normal aging patterns in hippocampus and amygdala (p>0.56). No associations were found between putamen volumes and disease duration or severity in CD (p>0.30). Other focal dystonia subtypes showed age-related putamen declines similar to controls (embouchure: β=-18.9, p=0.11).

Conclusion: CD is characterized by selective preservation of putamen volumes with aging, contrasting with typical age-related decline in controls and other dystonia subtypes. This preservation is specific to putamen while normal aging patterns occur in other tested brain regions, suggesting group-specific structural alterations in CD pathophysiology.

References: 1. Draganski B, Thun-Hohenstein C, Bogdahn U, et al. “Motor circuit” gray matter changes in idiopathic cervical dystonia. Neurology. 2003;61(9):1228-1231.
2. Obermann M, Yaldizli O, De Greiff A, et al. Morphometric changes of sensorimotor structures in focal dystonia. Mov Disord. 2007;22(8):1117-1123.
3. Walhovd KB, Fjell AM, Reinvang I, Lundervold A, Dale AM, Eilertsen DE, Quinn BT, Salat D, Makris N, Fischl B. Effects of age on volumes of cortex, white matter and subcortical structures. Neurobiol Aging. 2005 Oct;26(9):1261-70; discussion 1275-8. doi: 10.1016/j.neurobiolaging.2005.05.020. PMID: 16005549.
4. Fischl B. FreeSurfer. Neuroimage. 2012 Aug 15;62(2):774-81. doi: 10.1016/j.neuroimage.2012.01.021. Epub 2012 Jan 10. PMID: 22248573; PMCID: PMC3685476.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/preservation-of-putamen-volume-with-aging-in-cervical-dystonia-not-other-focal-dystonia-subtypes-a-cross-sectional-neuroimaging-study/