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The Importance of LRRK2 Mutations in Parkinson Disease
Arch Neurol. 2006;63:1225-1228.
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Parkinson disease (PD) is the second most common neurodegenerative disease after Alzheimer disease. It has an age-adjusted prevalence of approximately 150 of 100 000 and 2% at age 75 years. The early clinical features predominantly involve motor deficits that include asymmetric onset of resting tremor (usually upper limb), bradykinesia, and rigidity. These are, for the most part, the consequence of loss of dopaminergic neurons in the substantia nigra pars compacta. An important morphological hallmark of PD is the presence of Lewy bodies in a proportion of surviving neurons.
Study of the etiology and pathogenesis of P D has provided invaluable insights into the molecular mechanisms that may underlie neuronal dysfunction and degeneration in this disease. Perhaps the most important of these is the identification of 6 different genes implicated in the cause of PD: -synuclein, parkin, UCHL1, DJ1, PINK1, and LRRK2. With the exception of LRRK2, all are . . . [Full Text of this Article] LRRK2 PROTEIN
LRRK2 MUTATIONS
LRRK2 EPIDEMIOLOGICAL FEATURES CLINICAL FEATURES OF LRRK2 MUTATIONS PATHOLOGICAL FEATURES OF LRRK2 MUTATIONS CONCLUSIONS
AUTHOR INFORMATION
Anthony H. V. Schapira, MD, DSc, FRCP, FMedSci
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