Brain Advance Access originally published online on June 7, 2006
Brain 2006 129(9):2341-2352; doi:10.1093/brain/awl148
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Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17)
1 Department of Neurology and NeuroImage Nord, University Hospital of Schleswig-Holstein Campus Luebeck, Luebeck, Germany 2 Department of Psychiatry and Psychotherapy, University Hospital of Schleswig-Holstein Campus Luebeck, Luebeck, Germany 3 Institute of Human Genetics, University Hospital of Schleswig-Holstein Campus Luebeck, Luebeck, Germany 4 Department of Psychiatry, Friedrich-Schiller University of Jena Jena, Germany 5 Department of Neurology, University of Rostock Rostock, Germany
Correspondence to: Ferdinand Binkofski, MD, Department of Neurology and NeuroImage Nord, University Hospital of Schleswig-Holstein, Campus Luebeck, Ratzeburger Allee 160, 23538 Luebeck, Germany E-mail: ferdinand.binkofski{at}neuro.uni-luebeck.de
Spinocerebellar ataxia 17 (SCA17) is a rare genetic disorder characterized by cerebellar, extrapyramidal, pyramidal as well as psychiatric signs. The pathoanatomical basis of this disorder is still not well known. A total of 12 patients and 12 age- and sex-matched controls were examined by in vivo MRI voxel-based morphometry (VBM). Besides general patterns of disease-related brain atrophy, characteristic syndrome-related morphological changes in SCA17 patients were studied. In comparison with normal controls, SCA17 patients showed a pattern of degeneration of the grey matter centred around mesial cerebellar structures, occipito-parietal structures, the anterior putamen bilaterally, the thalamus and other parts of the motor network, reflecting the cerebellar, pyramidal and extrapyramidal signs. A correlation analysis revealed a clear association between the clinical cerebellar, extrapyramidal and psychiatric scores and degeneration in specific areas. Two degeneration patterns were found as follows: regarding motor dysfunction, atrophy of the grey matter involved mainly the cerebellum and other motor networks, in particular the basal ganglia. In contrast, correlations with psychiatric scores revealed grey matter degeneration patterns in the frontal and temporal lobe, the cuneus and cingulum. Most interestingly, there was a highly significant correlation between the clinical Mini-Mental State Examination scores and atrophy of the nucleus accumbens, probably accounting for the leading psychiatric signs.
Key Words: basal ganglia; cerebellar atrophy; nucleus accumbens; SCA17; voxel-based morphometry
Abbreviations: FDR, false discovery rate; GAF, Global Assessment of Functioning; GAS, Global Assessment Scale; ICARS, International Cooperative Ataxia Rating Scale; MMSE, Mini-Mental State Examination; SCA, spinocerebellar ataxia; SVC, small volume correction; UPDRS III, Unified Parkinson's Disease Rating Scale; VBM, voxel-based morphometry
Received November 29, 2005. Revised April 26, 2006. Accepted May 8, 2006.
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