<i>DJ-1</i> mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

Abstract excerpt

arkinson's disease (PD; OMIM #168600) is a common neurodegenerative disorder characterised by bradykinesia, resting tremor, muscle rigidity, and postural instability. The pathological features include loss of dopaminergic neurones, in particular within the substantia nigra pars compacta, and eosinophilic, cytoplasmic inclusions termed Lewy bodies. 1 Although rare, familial forms of parkinsonism provide a powerful...

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