The First Genetically Confirmed McLeod Syndrome in Korea.
- Author:
Kye Won PARK
1
;
Soo JEONG
;
Eul Ju SEO
;
Chong S LEE
Author Information
- Publication Type:Case Report
- Keywords: McLeod syndrome; Neuroacanthocytosis
- MeSH: Abetalipoproteinemia; Base Pairing; Chorea; Cognition Disorders; Exons; Humans; Korea*; Male; Middle Aged; Muscular Diseases; Neuroacanthocytosis; Psychotic Disorders; Seizures
- From:Journal of the Korean Neurological Association 2017;35(2):85-88
- CountryRepublic of Korea
- Language:Korean
- 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).
