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Parkinson's disease (PD) is a progressive neurological movement disorder characterised pathologically by degeneration of dopaminergic neurons in the substantia nigra pars compacta and the presence of Lewy bodies. Cardinal clinical features of PD are bradykinesia, rigidity, resting tremor, postural instability and responsiveness to levodopa. Identification of patients with causative variations in the PD-related genes (eg, SNCA, LRRK2, Parkin, PINK1, DJ-1 and ATP13A2) has been challenging given that only some patients have distinctive clinical phenotypes or a suggestive family history. Although clinical clues to a specific monogenic form of PD may be observed in some cases, for instance, behavioural problems and postural hypotension in patients with missense mutations in SNCA, early-onset dystonia in patients with mutations in Parkin and vertical gaze palsy, spasticity and facial-faucal mini-myoclonus in patients with mutations in ATP13A2,1 ,2 these manifestations are not universally present. Moreover, patients with mutations in LRRK2 or multiplications in SNCA can be clinically indistinguishable from idiopathic PD. Additionally, …
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