Abstract
McLeod syndrome is a rare X-linked recessive neuroacanthocytosis syndrome, caused by mutations of the gene encoding for the McLeod protein XK. Symptoms include chorea and other movement disorders, and several other peripheral and central neurological abnormalities. Cardiomyopathy and hepatosplenomegaly are typical. Psychiatric and cognitive impairment may be seen. Elevated creatine kinase and liver enzyme abnormalities suggest the diagnosis.
Original language | English |
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Title of host publication | The Curated Reference Collection in Neuroscience and Biobehavioral Psychology |
Publisher | Elsevier Science Ltd. |
Pages | 162-164 |
Number of pages | 3 |
ISBN (Electronic) | 9780128093245 |
DOIs | |
State | Published - 1 Jan 2016 |
Keywords
- Acanthocytosis
- Cardiomyopathy
- Chorea
- Erythrocyte
- McLeod syndrome
- Neuroacanthocytosis
- Neuropathy
- Seizures
- XK