Research paperNeuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement
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2017, Experimental NeurologyCitation Excerpt :The underlying cause of these clinical changes is unknown, making therapeutic targeting difficult. Links between the time-of-onset and nature of clinical symptoms, and the appearance of axonal dystrophies have been made in several similar neurodegenerative lysosomal storage disorders i.e. Niemann-Pick C, GM2 gangliosidosis and α-mannosidosis (Walkley et al., 1991; March et al., 1997; Pressey et al., 2012). Dystrophic lesions immunopositive for phosphorylated α-synuclein were observed in the temporal cerebral cortex, hippocampus, periaqueductal gray, substantia nigra and anteroventral nucleus in a post-mortem examination of human MPS IIIB brain (Hamano et al., 2008).
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