Objective: X-linked spinobulbar muscular atrophy (Kennedy disease, KD) which is clinically mainly characterised by neuromuscular and endocrinal symptoms has to be considered as a multisystem disorder. Based on clinical evidence for central nervous system involvement, potential KD-associated cerebral volume alterations were analysed in vivo.
Methods: The whole-brain-based analysis of optimised voxel-based morphometry (VBM) was applied to 3-dimensional magnetic resonance imaging (MRI) data of 18 genetically confirmed KD patients in comparison to age-matched controls. Results: Subtle grey matter volume decreases, mainly localised in frontal areas, were found, but extensive white matter atrophy was observed, particularly in frontal areas, but also involving multiple additional subcortical areas, the cerebellar white matter, and the dorsal brainstem from the midbrain to the medulla oblongata.
Conclusion: The VBM results demonstrate a morphological correlate of central nervous system involvement in KD, in agreement with aspects of the clinical phenotype (behavioral abnormalities, central-peripheral axonopathy) and with pathohistological findings.
- Kennedy disease
- magnetic resonance imaging
- multisystem disorder