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Parkinsonism Relat Disord. 2011 Aug;17(7):521-7. doi: 10.1016/j.parkreldis.2011.04.008. Epub 2011 May 20.

Gray matter volume deficits in spinocerebellar ataxia: an optimized voxel based morphometric study.

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Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health & Neurosciences, Hosur Road, Bangalore, Karnataka, India.



Spinocerebellar ataxias (SCA) are a group of autosomal dominant ataxias with varied clinical phenotypes. However there are no unique distinguishing features on routine neuroimaging among the various genetically defined SCAs. Voxel-based morphometry (VBM) provides an automated unbiased analysis of structural MRI scans and gives a comprehensive assessment of anatomical differences throughout the brain.


The aims of this study were to (i) characterize the patterns of atrophy in SCA1, SCA2 and SCA3 using optimized VBM, (ii) demonstrate the characteristic anatomical differences in these genetically distinct SCA subtypes, and (iii) assess the relationship between morphometric measures and the CAG repeat lengths and other attributes of the disease.


Thirty-one genetically confirmed patients suffering from SCA (SCA1 - 12, SCA2 - 9, and SCA3 - 10) were studied. High resolution T1-weighted 3-Dimensional Magnetic Resonance Images of 31 patients were analyzed using the optimized VBM procedure.


In all the three SCAs there was a significant loss of gray matter in both cerebellar hemispheres and vermis. Vermian atrophy was more pronounced in SCA3, while SCA1 and SCA2 had significant white matter atrophy. Pontine white matter atrophy was more pronounced in SCA2. In SCA1, the severity of ataxia strongly correlated with the degree of gray matter atrophy in cerebellar hemispheres. The duration of symptoms and lengths of CAG repeats had no correlation with the degree of atrophy.


This study showed that the different subtypes of SCAs may have morphometric differences in the cerebellum, brainstem and the supratentorial structures.

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