Acta Neuropathologica

, Volume 116, Issue 3, pp 331–336 | Cite as

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy

  • Jeremy J. Moeller
  • Robert J. B. Macaulay
  • Paul N. Valdmanis
  • Lyle E. Weston
  • Guy A. Rouleau
  • Nicolas Dupré
Case Report

Abstract

Autosomal dominant sensory ataxia (ADSA), a rare hereditary ataxia, is characterized by progressive dysfunction of central sensory pathways. Its pathological features have not been previously documented. We report a case of a 61-year-old man with ADSA who died of congestive heart failure. Autopsy specimens of brain, thoracolumbar spinal cord, peripheral nerve and skeletal muscle were examined. There was no abnormality on gross examination. Microscopically, there were occasional swollen axons within the cerebral cortex and deep nuclei, particularly the subthalamic nucleus, with no neuronal loss, gliosis or microglial activation. There were many axonal spheroids within the medulla, particularly in the dorsal column nuclei. Axonal spheroids were also seen in the dorsal columns and ventral horns in the thoracolumbar spinal cord, but there was no Wallerian degeneration or demyelination. Amyloid precursor protein (APP) immunostaining of some of the spheroids suggested continuing dysfunction of axoplasmic flow in some regions. There was mild inflammation of peripheral nerve roots but no spheroid, and patchy chronic inflammation of skeletal muscle. In summary, the major pathological process in ADSA is a neuroaxonal dystrophy most prominent in the dorsal columns and dorsal column nuclei, consistent with the clinical pattern of central sensory pathway degeneration.

Keywords

Autosomal dominant sensory ataxia Spinocerebellar degeneration Neuroaxonal dystrophy 

Notes

Acknowledgments

The authors are indebted to the patient and his family for their participation. We also thank Dr. Sarah Colwell at the Moncton Hospital for initially contacting us about this patient and organizing transportation of tissue to our institution. G.A.R. and N.D. are supported by the Canadian Institutes of Health Research (CIHR). P.V. is supported by the Fonds de la Recherche en Santé Québec (FRSQ). The authors have no conflict of interest to disclose.

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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Jeremy J. Moeller
    • 1
  • Robert J. B. Macaulay
    • 2
  • Paul N. Valdmanis
    • 3
  • Lyle E. Weston
    • 4
  • Guy A. Rouleau
    • 3
  • Nicolas Dupré
    • 3
    • 5
  1. 1.Division of Neurology, Department of MedicineDalhousie UniversityHalifaxCanada
  2. 2.Department of Pathology and Laboratory Medicine, Queen Elizabeth II Health Sciences Centre Dalhousie UniversityHalifaxCanada
  3. 3.Centre of Excellence in NeuromicsCHUM Research Centre, Notre-Dame HospitalMontrealCanada
  4. 4.Moncton HospitalMonctonCanada
  5. 5.Department of Neurological SciencesCHAUQ, Enfant-JésusQuebec CityCanada

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