Cerebral involvement in McLeod syndrome

Neurology. 1994 Jan;44(1):117-20. doi: 10.1212/wnl.44.1.117.

Abstract

McLeod syndrome is an Xp21-linked Kell blood group variant due to lack of erythrocyte protein Kx with associated RBC membrane dysfunction such as acanthocytosis. A man with this syndrome developed chorea and slight neuropsychological impairment. He had caudate atrophy on cerebral imaging and reduced striatal dopamine D2-receptor binding on single-photon emission computed tomography. Since Xp21 was partly deleted in the patient, the missing gene product (possibly Kx) may be essential for the integrity of the striatum.

Publication types

  • Case Reports

MeSH terms

  • Benzamides
  • Brain / diagnostic imaging
  • Brain / pathology
  • Brain / physiopathology*
  • Contrast Media
  • Genetic Linkage*
  • Humans
  • Kell Blood-Group System / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neuropsychological Tests
  • Pyrrolidines
  • Syndrome
  • Tomography, Emission-Computed, Single-Photon
  • Tomography, X-Ray Computed
  • X Chromosome*

Substances

  • Benzamides
  • Contrast Media
  • Kell Blood-Group System
  • Pyrrolidines
  • 3-iodo-2-hydroxy-6-methoxy-N-((1-ethyl-2-pyrrolidinyl)methyl)benzamide