Autosomal recessive, early-onset Parkinson’s disease
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Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease, with a prevalence of 1-2% in the population aged 65 years.1 The disease is clinically defi ned by the presence of parkinsonism (the combination of akinesia, resting tremor, and muscular rigidity), and a good response to dopaminergic therapy. These features are associated at pathological level with neuronal loss and gliosis, mainly in the substantia nigra pars compacta but also in other brain areas, and formation of cytoplasmic inclusions called Lewy bodies (LB) and Lewy neurites in the surviving neurons.2 The role of genetics versus environment in the etiology of PD has been a matter of debate for more than a century, with alternating fortunes.
Oostra, Prof. Dr. B.A. (promotor),
Heutink, Prof. Dr. P. (promotor),
Internationale Stichting Alzheimer Onderzoek,
Roche Nederland B.V.
- parkin gene
- parkin mutations
- bonifati v