Abstract
The pathology of Huntington’s disease is well characterized by atrophy, neuronal loss and gliosis of the striatum, with preferential damage of the small and medium spiny neurons. The surviving cells show nuclear and intracytoplasmic inclusions that stain with antibodies against ubiquitin and huntingtin. Involvement of other brain regions is common for the cerebral cortex (loss of the pyramidal glutamate bearing neurons, projecting to the striatum) and less frequent in other brain regions (globus pallidus, thalamus, subthalamic nucleus, substantia nigra, and cerebellum). In neuroacanthocytosis there is a more selective involvement of the striatum and globus pallidus, though the substantia nigra and medial thalamus may be affected in some cases. Involvement of the anterior horn cells and of the peripheral nerve is also described, and myopathic changes have been reported. No inclusions or specific immunocytochemical patterns have yet been reported in neuroacanthocytosis.
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Martínez, A., Mena, M.A., Jamrozik, Z., de Yébenes, J.G. (2004). Pathology of Neuroacanthocytosis and of Huntington’s Disease. In: Danek, A. (eds) Neuroacanthocytosis Syndromes. Springer, Dordrecht. https://doi.org/10.1007/1-4020-2898-9_11
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DOI: https://doi.org/10.1007/1-4020-2898-9_11
Publisher Name: Springer, Dordrecht
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