Degeneration of the Cerebellum in Huntingtons Disease
Brain Pathology ISSN 1015-6305 RESEARCH ARTICLE Degeneration of the Cerebellum in Huntington’s Disease (HD): Possible Relevance for the Clinical Picture and Potential Gateway to Pathological Mechanisms of the Disease Process Udo Rüb1; Franziska Hoche1; Ewout R. Brunt2; Helmut Heinsen3; Kay Seidel1; Domenico Del Turco4; Henry L. Paulson5; Jürgen Bohl6; Charlotte von Gall7; Jean-Paul Vonsattel8; Horst-Werner Korf1; Wilfred F. den Dunnen9 1 Dr. Senckenbergisches Chronomedizinisches Institut, Goethe-University, Frankfurt/Main, Germany. 2 Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. 3 Morphological Brain Research Unit, Psychiatric Clinic, Julius Maximilians University Würzburg, Würzburg, Germany. 4 Institute of Clinical Neuroanatomy, Dr. Senckenberg Anatomy, Goethe-University, Frankfurt/Main, Germany. 5 Department of Neurology, University of Michigan, Ann Arbor, MI. 6 Neuropathology Division, Johannes Gutenberg-University, Mainz, Germany. 7 Institut für Anatomie II, Heinrich-Heine Universität, Düsseldorf, Germany. 8 The New York Brain Bank/Taub Institute, The Presbyterian Hospital and Columbia University, New York. 9 Department of Pathology and Medical Biology, University Medical Center Groningen University of Groningen, Groningen, The Netherlands. Keywords Abstract cerebellum, Huntington’s disease, neurodegeneration, pathoanatomy, Huntington’s disease (HD) is a polyglutamine disease and characterized neuropathologi- polyglutamine diseases. cally by degeneration of the striatum and select layers of the neo- and allocortex. In the present study, we performed a systematic investigation of the cerebellum in eight clinically Corresponding author: diagnosed and genetically confirmed HD patients. The cerebellum of all HD patients Udo Rüb, MD, Dr. Senckenbergisches showed a considerable atrophy, as well as a consistent loss of Purkinje cells and nerve cells Chronomedizinisches Institut, Goethe of the fastigial, globose, emboliform and dentate nuclei.
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