McLeod syndrome is an X-linked neuroacanthocytosis syndrome caused by mutations of the XK gene. Central nervous system manifestations resemble Huntington’s disease, and include a choreatic movement disorder, dysexecutive cognitive deficits, psychiatric abnormalities, and generalized seizures. Neuromuscular manifestations include myopathy, sensory-motor axonal neuropathy, and cardiomyopathy. In the recent years, McLeod syndrome has increasingly recognized in various countries. Several studies demonstrate a high phenotypic variability. Most mutations in the XK gene predict an absent or truncated XK protein, and no clear genotype—genotype correlation has been found. Missense mutations are rare and may be associated with a milder phenotype. Imaging studies demonstrate striatal atrophy and subtle cerebral metabolic abnormalities. Neuropathological studies reveal striatal neuronal loss and gliosis without specific features. There is an ongoing search for a suitable animal model to disclose the pathogenetic mechanisms of the disorder and search for possible therapeutic targets.
Keywords
- Membrane Transport Protein
- Central Nervous System Manifestation
- Striatal Atrophy
- High Phenotypic Variability
- Neuromuscular Manifestation
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Jung, H.H. (2008). Update on McLeod Syndrome. In: Walker, R.H., Saiki, S., Danek, A. (eds) Neuroacanthocytosis Syndromes II. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-71693-8_4
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DOI: https://doi.org/10.1007/978-3-540-71693-8_4
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