Expanding the genetics of huntingtonism
The lines defining many clinical syndromes have become blurred. A patient presenting with what appears to be Parkinson disease may in fact have one of several genetic mutations (e.g., LRRK2, parkin), an atypical parkinsonian syndrome (e.g., multisystem atrophy, progressive supranuclear palsy), sporadic idiopathic Parkinson disease, or a number of other conditions. Conversely, known genetic mutations may have classical presentations, but they may also present with widely varying signs and symptoms.
School of Medicine