The neuropathology of McLeod syndrome

Abstract

McLeod syndrome (MLS) belongs to the heterogeneous group of neuroacanthocytosis (NA) syndromes that are characterized by an involvement of the hematological and nervous systems. Central nervous system symptoms of MLS resemble Huntington's disease (HD) or choreoacanthocytosis (ChAc) and include a choreatic movement disorder, psychiatric abnormalities, cognitive decline, and generalized seizures. In MLS, rather non-specific pathological changes are present in the caudate nucleus, putamen and pallidum, which are characterized by neuronal loss and astrogliosis. ChAc may show an additional involvement of the substantia nigra and thalamus, and HD features more widespread pathology and the presence of distinctive intranuclear inclusions. Cortical pathology predominantly occurs in HD, is less pronounced in ChAc, and most likely present to an only minor extent in MLS. However, the nature of cortical, subcortical, and basal ganglia pathology in MLS remains to be investigated in more detail in larger autopsy series.