Peter Vieregge

TL;DR: High-resolution recombination mapping and candidate gene sequencing in 46 families found six disease-segregating mutations in a gene encoding a large, multifunctional protein, LRRK2 (leucine-rich repeat kinase 2), which may be central to the pathogenesis of several major neurodegenerative disorders associated with parkinsonism.

TL;DR: A different genetic locus that appears to be involved in the development of parkinsonism closely resembling sporadic PD is described including a similar mean age of onset (59 years in the families, 59.7 years in sporadic PD; ref. 12).

TL;DR: A role for environmental and genetic factors in the etiology of PD is supported by a case-control study investigating possible etiologic relevance to Parkinson's disease of rural factors such as farming activity, pesticide exposures, well-water drinking, and animal contacts.

TL;DR: Electrophysiological data showed in the majority of patients normal to slightly reduced nerve conduction velocities with often severely reduced amplitudes of the compound motor and sensory nerve action potentials, whereas a smaller group experienced a later onset and milder disease course.

TL;DR: PET data provide evidence that parkinsonism in this family is associated with presynaptic dopaminergic dysfunction similar to idiopathic Parkinson's disease pathophysiology, along with alterations at the postsynaptic D2 receptor level.