Acta Neuropathologica

, Volume 109, Issue 6, pp 617–631

Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2)

  • K. Gierga
  • K. Bürk
  • M. Bauer
  • G. Orozco Diaz
  • G. Auburger
  • C. Schultz
  • M. Vuksic
  • L. Schöls
  • R. A. I. de Vos
  • H. Braak
  • T. Deller
  • U. Rüb
Regular Paper

DOI: 10.1007/s00401-005-1014-8

Cite this article as:
Gierga, K., Bürk, K., Bauer, M. et al. Acta Neuropathol (2005) 109: 617. doi:10.1007/s00401-005-1014-8

Abstract

Although the cranial nerves, their nuclei and related fiber tracts are crucial for a variety of oculomotor, somatomotor, somatosensory, auditory, vestibular-related, autonomic and ingestion-related functions, knowledge regarding the extent of their involvement in spinocerebellar ataxia type 2 (SCA2) patients is incomplete. Accordingly, we performed a pathoanatomical analysis of these structures in six clinically diagnosed SCA2 patients. Unconventionally thick serial sections through the brainstem stained for lipofuscin pigment (aldehyde-fuchsin) and Nissl material (Darrow red) showed that all oculomotor, somatomotor, somatosensory, auditory, vestibular and autonomic cranial nerve nuclei may undergo neurodegeneration during SCA2. Similarly, examination of myelin-stained thick serial sections revealed that nearly all cranial nerves and associated fiber tracts may sustain atrophy and myelin loss in SCA2 patients. In view of the known functional role of the affected cranial nerves, their nuclei and associated fiber tracts, the present findings provide appropriate pathoanatomical explanations for some of the disease-related and unexplained symptoms seen in SCA2 patients: double vision, gaze palsy, slowing of saccades, ptosis, ingestion-related malfunctions, impairments of the optokinetic nystagmus and the vestibulo-ocular reaction, facial and tongue fasciculation-like movements, impaired centripetal transmission of temperature-related information from the face, dystonic posture of the neck, as well as abnormalities of the brainstem auditory evoked potentials.

Keywords

BrainstemCranial nervesPathoanatomyPolyglutamine diseasesSpinocerebellar ataxias

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • K. Gierga
    • 1
  • K. Bürk
    • 2
  • M. Bauer
    • 3
  • G. Orozco Diaz
    • 4
  • G. Auburger
    • 5
  • C. Schultz
    • 1
  • M. Vuksic
    • 1
  • L. Schöls
    • 6
  • R. A. I. de Vos
    • 7
  • H. Braak
    • 1
  • T. Deller
    • 1
  • U. Rüb
    • 1
  1. 1.Institute of Clinical NeuroanatomyJ.W. Goethe UniversityFrankfurt/MainGermany
  2. 2.Department of NeurologyUniversity of UlmUlmGermany
  3. 3.Department of NeuropathologyPsychiatric Center Northern BadenWieslochGermany
  4. 4.Department of NeurologyV. I. Lenin HospitalHolguínCuba
  5. 5.Section Molecular Neurogenetics, Department of NeurologyJ.W. Goethe UniversityFrankfurt/MainGermany
  6. 6.Center of Neurology and Hertie-Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany
  7. 7.Laboratorium Pathologie Oost NederlandEnschedeThe Netherlands