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KMID : 0359720170350020085
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Journal of the Korean Neurological Association
2017 Volume.35 No. 2 p.85 ~ p.88
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The First Genetically Confirmed McLeod Syndrome in Korea
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Park Kye-Won
Jeong Soo
Seo Eul-Ju
Lee Chong-Sik
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Abstract
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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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KEYWORD
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McLeod syndrome, Neuroacanthocytosis
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