Artikel
Degeneration of the cerebellum and brainstem in Huntington’s disease (HD)
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Veröffentlicht: | 25. August 2015 |
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Gliederung
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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).