Abstract
We report the muscle and peripheral nerve biopsy findings in a series of Italian patients with McLeod syndrome and chorea-acanthocytosis (ChAc). Myopathy was the prominent feature in McLeod syndrome, with central nucleation and necrotic fibers as the more constant findings. Occasionally mitochondrial changes, as a secondary phenomenon, were observed. Nerve pathology mostly consisted in myelinic lesions, such as thin myelin sheaths and onion bulb formations. In ChAc patients, peripheral nerve biopsy showed loss of large myelinated fibers, axonal degeneration and axoplasmic accumulation of membranolamellar profiles. These findings were indicative of a distal axonopathy. Muscle pathology in ChAc mainly showed neurogenic atrophy. In both diseases, the pathological process underlying the neuromuscular involvement remains to be determined.
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Dotti, M.T., Malandrini, A., Federico, A. (2004). Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosis. In: Danek, A. (eds) Neuroacanthocytosis Syndromes. Springer, Dordrecht. https://doi.org/10.1007/1-4020-2898-9_15
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DOI: https://doi.org/10.1007/1-4020-2898-9_15
Publisher Name: Springer, Dordrecht
Print ISBN: 978-1-4020-2897-7
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