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60th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

German Society for Neuropathology and Neuroanatomy

26. - 28.08.2015, Berlin

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Degeneration of the cerebellum and brainstem in Huntington’s disease (HD)

Meeting Abstract

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  • corresponding author presenting/speaker Udo Rüb - J.W. Goethe University, Dr. Senckenbergisches Chronomedizinisches Institut, Frankfurt/Main, Germany
  • Ewout Brunt - University of Groningen, Groningen, Netherlands
  • Helmut Heinsen - Julius Maximilians University, Psychiatric Clinic, Würzburg, Germany
  • Kay Seidel - J.W. Goethe University, Dr. Senckenbergisches Chronomedizinisches Institut, Frankfurt/Main, Germany
  • Katharina Stratmann - J.W. Goethe University, Dr. Senckenbergisches Chronomedizinisches Institut, Frankfurt/Main, Germany
  • Henry Paulson - University of Michigan, Department of Neurology, Michigan, United States
  • Jean Paul Vonsattel - Ther Presbyterian Hospital and Columbia University, The New York Brain Bank, New York, United States
  • Wilfred den Dunen - University of Groningen, Department of Pathology and Medical Biology, Groningen, Netherlands
  • Horst-Werner Korf - J.W. Goethe University, Dr. Senckenbergisches Chronomedizinisches Institut, Frankfurt/Main, Germany

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie. 60th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN). Berlin, 26.-28.08.2015. Düsseldorf: German Medical Science GMS Publishing House; 2015. Doc15dgnnP2

doi: 10.3205/15dgnn26, urn:nbn:de:0183-15dgnn268

Published: August 25, 2015

© 2015 Rüb et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. See license information at http://creativecommons.org/licenses/by/4.0/.

Outline

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Introduction: Huntington’s disease (HD) is a progressive polyglutamine disease which is characterized neuropathologically by severe neuronal loss in the striatum and select layers of the neo-and allocortex. The cerebellum and brainstem are among the brain sites whose neuropathological state in and relevance for the clinical picture of HD is still controversial.

Objectives: To analyse the pathoanatomy of the cerebellum and brainstem in HD patients.

Patients and methods: Serial thick tissue sections through the cerebellum and brainstem of eight clinically diagnosed and genetically confirmed HD patients and twelve control individuals underwent Pigment-Nissl staining for neuronal lipofuscin pigment and Nissl material or where immunolabeled for the marker of cerebellar Purkinje cells (i.e. calbindin).

Results: Our study revealed a consistent neurodegeneration of the cerebellar Purkinje cell layer and cerebellar fastigial, globose, emboliform and dentate nuclei. An additional neuronal loss was present in the following brainstem nuclei: substantia nigra, pontine nuclei, reticulotegmental nucleus of the pons, superior and inferior olives, area of the excitatory burst neurons for horizontal saccades, raphe interpositus nucleus, and vestibular nuclei.

Conclusions: HD is associated with a widespread neurodegeneration of the cerebellum and brainstem and represents a multisystem neurodegenerative disease. Damage to the cerebellum and brainstem contributes to poorly understood HD disease symptoms (i.e. impaired rapid alternating movements, dysarthria, ataxia and postural instability, gait and stance imbalance, broad-based gait and stance, oculomotor dysfunctions).