J Korean Neurol Assoc.
2017 May;35(2):85-88. 10.17340/jkna.2017.2.4.
The First Genetically Confirmed McLeod Syndrome in Korea
- Affiliations
-
- 1Department of Neurology, Asan Medical Center, Ulsan University College of Medicine, Seoul, Korea. chongslee@me.com
- 2Department of Laboratory Medicine, Asan Medical Center, Ulsan University College of Medicine, Seoul, Korea.
- KMID: 2379308
- DOI: http://doi.org/10.17340/jkna.2017.2.4
Abstract
- McLeod syndrome is a rare X-linked multisystem disorder which forms the core of neuroacanthocytosis syndrome. Neurological symptoms characterized by chorea, seizure, cognitive impairment, and psychosis mostly develop around the 5-6th decades, accompanied by multisystem involvement comprising neuropathy, myopathy, acanthocytosis and hepatosplenomegaly. We hereby present a 60-year-old male who is the first genetically confirmed Korean McLeod syndrome patient. Genetic analysis of his XK gene revealed a previously reported 5 base pair deletion of exon 3 (c.856_860delCTCTA).
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