Abstract
The term Levine-Critchley syndrome has been applied to an inherited multi-system degenerative neurological disorder associated with acanthocytosis in the absence of any lipid abnormality. Involuntary movements particularly affect the orofacial region and may cause dysarthria, dysphagia and vocalisations as well as tongue and lip biting which, when present, are virtually diagnostic. Psychiatric features, seizures, peripheral neuropathy and elevated plasma creatine kinase levels are all common. However, recent advances in molecular biology have shown the syndrome to be genetically heterogeneous, with mutations in at least two separate genes, both the CHAC and McLeod genes being associated with very similar phenotypes.
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Hardie, R.J. (2004). Levine-Critchley Syndrome of Neuroacanthocytosis: A Clinical Review. In: Danek, A. (eds) Neuroacanthocytosis Syndromes. Springer, Dordrecht. https://doi.org/10.1007/1-4020-2898-9_4
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DOI: https://doi.org/10.1007/1-4020-2898-9_4
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