Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17)

Brain. 2006 Sep;129(Pt 9):2341-52. doi: 10.1093/brain/awl148. Epub 2006 Jun 7.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Atrophy
  • Basal Ganglia / pathology
  • Brain / pathology
  • Case-Control Studies
  • Cerebellum / pathology
  • Female
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Motor Activity / physiology
  • Neuropsychological Tests
  • Parkinsonian Disorders / genetics
  • Parkinsonian Disorders / pathology
  • Personality Disorders / diagnosis
  • Personality Disorders / pathology
  • Spastic Paraplegia, Hereditary / pathology
  • Spastic Paraplegia, Hereditary / physiopathology
  • Spastic Paraplegia, Hereditary / psychology
  • Spinocerebellar Ataxias / pathology*
  • Spinocerebellar Ataxias / physiopathology
  • Spinocerebellar Ataxias / psychology
  • Telencephalon / pathology
  • Time Factors