The Cerebellum

, Volume 13, Issue 2, pp 199–206

Metabolic Evidence for Cerebral Neurodegeneration in Spinocerebellar Ataxia Type 1

  • Sarah Doss
  • Alexander U. Brandt
  • Timm Oberwahrenbrock
  • Matthias Endres
  • Friedemann Paul
  • Jan Leo Rinnenthal
Original Paper

DOI: 10.1007/s12311-013-0527-2

Cite this article as:
Doss, S., Brandt, A.U., Oberwahrenbrock, T. et al. Cerebellum (2014) 13: 199. doi:10.1007/s12311-013-0527-2

Abstract

Autosomal-dominant spinocerebellar ataxia type 1 (SCA1) is an adult-onset progressive disorder with well-characterized neurodegeneration in the cerebellum and brainstem. The objective of this study is to evaluate neurochemical changes associated with neurodegeneration in cerebral tissue in SCA1 patients compared to age- and gender-matched healthy controls. Nine patients with genetically proven SCA1 and nine gender- and age-matched healthy controls were prospectively recruited from the ataxia clinic and received clinical examination. A 1.5 T single-voxel brain proton MR spectroscopy was performed for total N-acetyl aspartate (tNAA) in cerebellum, parietofrontal lobe white matter, sensory cortex, and visual cortex. In the patients, tNAA was severely decreased in the cerebellar voxel; however, in the voxels positioned in sensory cortex, parietofrontal lobe white matter and visual cortex tNAA was reduced in comparison to controls. In addition to the profoundly affected cerebellum, we also found evidence for cerebral neurodegeneration in parietal lobe white matter, sensory cortex, and visual cortex in SCA1 patients illustrating a multisystem neurodegenerative character of the disease.

Keywords

Spinocerebellar ataxiaSCA1Cerebral atrophyMR spectroscopyNAA

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Sarah Doss
    • 1
    • 2
    • 3
  • Alexander U. Brandt
    • 2
  • Timm Oberwahrenbrock
    • 2
  • Matthias Endres
    • 1
    • 2
    • 6
  • Friedemann Paul
    • 2
    • 4
  • Jan Leo Rinnenthal
    • 5
  1. 1.Department of NeurologyCharité–Universitätsmedizin BerlinBerlinGermany
  2. 2.Excellence Cluster NeuroCureCharité–Universitätsmedizin BerlinBerlinGermany
  3. 3.Max-Delbrück Center for Molecular Medicine BerlinBerlinGermany
  4. 4.Experimental and Clinical Research CenterCharité–Universitätsmedizin BerlinBerlinGermany
  5. 5.Department of NeuropathologyCharité–Universitätsmedizin BerlinBerlinGermany
  6. 6.Centrum für Schlaganfallforschung Berlin (CSB), Charité – Universitätsmedizin BerlinBerlinGermany