The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

Abstract

In Parkinson disease (PD) and related syndromes, the degeneration of dopaminergic neurons and the formation of Lewy bodies (LBs) manifest clinically as motor dysfunction that includes bradykinesia, resting tremor, and rigidity. Early nonmotor signs associated with PD may include olfactory dysfunction, mood and behavioral disturbances, and subtle neurocognitive changes.¹ Although genetic alterations have been identified in some with familial PD, in most sporadic cases the cause of neurodegeneration remains unknown. In recent years, multiple loci and mutations have been implicated in the etiology of rare Mendelian forms of PD, with a spectrum of phenotypes encountered.²