MCLEOD NEUROACANTHOCYTOSIS - AN UNDERDIAG NOSED SYNDROME

The defect of an ubiquitary membrane protein leads to manifestations i n erythrocytes (acanthocytosis), heart, liver, muscle, peripheral nerv e and brain. Neurological symptoms of a McLeod syndrome are sensory an d motor axonopathy, myopathic changes, a choreatic movement disorder a nd neuro-psychological abnormalities. Four patients (aged 27 to 60 yea rs) from 3 non-related families are presented. XK, the gene responsibl e for a McLeod syndrome, encodes a novel membrane protein with structu ral characteristics of a transport protein. Clinical and morphological analogies between McLeod syndrome and early states of Huntington's di sease may lead to a better understanding of the pathogenesis of degene rative striatal disorders.