Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis

Masami Shizuka, Mitsunori Watanabe, Masashi Aoki, Yoshio Ikeda, Kazuyuki Mizushima, Koichi Okamoto, Yasuto Itoyama, Koji Abe, Mikio Shoji

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


McLeod syndrome is a rare X-linked disorder involving neurological defects and acanthocytosis. We examined the XK gene in three patients with neuroacanthocytosis, one of whom had cardiomyopathy, and his symptoms were very similar to those of McLeod syndrome. We found two new transversions (C to G at codon 204 and G to C at codon 205) in exon 3 in all those cases. However, the transversion at codon 205 was found in all 70 Japanese normal subjects and four non-Japanese (two Caucasian males, one Chinese female and one Micronesian female) and that at codon 204 was also detected in all 14 normal Japanese males and the four non-Japanese. These findings suggest that they are not the cause of McLeod syndrome, but normal polymorphisms which have not been reported. Moreover, there is a possibility that patients with neuroacanthocytosis similar to McLeod syndrome exist without the XK gene abnormalities.

Original languageEnglish
Pages (from-to)133-135
Number of pages3
JournalJournal of the neurological sciences
Issue number2
Publication statusPublished - Sept 10 1997
Externally publishedYes


  • McLeod syndrome
  • Neuroacanthocytosis
  • XK gene
  • XK protein

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


Dive into the research topics of 'Analysis of the McLeod syndrome gene in three patients with neuroacanthocytosis'. Together they form a unique fingerprint.

Cite this