McLeod syndrome; McLeod neuroacanthocytosis syndrome

Defined on the basis of abnormal expression of Kell blood group antigens; characterized by absence of Kx antigen, associated with marked reduction of all Kell antigens. Pathology: - striatal degeneration - hematopoietic dysfunction Genetics: - defects in XK are the cause of McLeod syndrome Clinical manifestations: - late onset - chorea - seizure - cognitive impairment - muscular dystrophy, late onset - cardiomyopathy - acanthocytosis Laboratory: - elevation of serum creatine kinase MM (muscle isoform) Differential diagnosis: - Huntington's disease - chorea-acanthocytosis (Levine-Critchley syndrome)

General

basal ganglia disease hematologic disease (blood disorder, blood dyscrasia) neurodegenerative disease syndrome X-linked disease

Database Correlations

OMIM 314850 MORBIDMAP 314850

References

Ho et al. Cell 77:869-80 1994