The Late Breaking Science Abstracts were originally presented at the 57th American Academy of Neurology Annual Meeting in Miami Beach, FL. These abstracts highlight the most current research by neurologists, neuroscientists, and other applicable researchers whose work is of major scientific importance or interest, warranting expedited presentation and publication. Key aspects of the research must have been conducted after the November 3 abstract deadline. Because of the late deadline for these abstracts, they were not included in the Program Issue.
Parkinson’s disease (PD), the second most common degenerative disorder of adulthood, is characterized clinically by rigidity, bradykinesia, resting tremor, and postural instability with good initial response to levodopa. Mutations in LRRK2 (PARK8) were recently identified in autosomal dominant Parkinson’s disease (ADPD), including the G2019S mutation that was found in different populations. In order to evaluate its frequency, we analyzed 200 index cases with ADPD, mostly from Europe and North Africa. Surprisingly, the frequency in North African families (41%; CI 18.4–67.1) was much greater than in those from Europe (2.8%); CI 0.9–6.5) (p<0.001). The clinical features in 21 patients, including one with an homozygous mutation were those of typical PD but with later onset and lower Mini Mental scores (MMSE). There were also 15 still unaffected mutation carriers, aged 32 to 74, indicating the existence of age-dependent penetrance. LRRK2 mutations appear to be a common cause of ADPD, particularly in North Africa.
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Disclosure: Lesage has nothing to disclose. Dr. Ibanez has received financial support from the French Industry of Science and Technology and the Verun Foundation. Dr. Lohmann has nothing to disclose. Dr. Agid has nothing to disclose. Dr. Dürr has nothing to disclose. Dr. Brice has nothing to disclose.
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