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Neurologist and Researcher, Studying Parkinson's disease, PSP, Motor Neuron Disease and Dementia Researcher ID: B-8527-2008
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Abstract LRRK2 (encoding leucine-rich repeat kinase 2) variants are the most common genetic cause of Parkinson’s disease (PD). Lowering LRRK2 levels and/or inhibiting LRRK2 activity may modify PD-associated neuropathology. BIIB094 (ION859), an antisense oligonucleotide, targets LRRK2 mRNA for degradation. REASON was a first-in-human randomized phase 1 study investigating the safety, tolerability, pharmacokinetics and pharmacodynamics of intrathecal BIIB094 in patients with PD.
Keywords Parkinson disease global genetics global consortium precision medicine What is Parkinson disease? Parkinson disease (PD) refers to a clinical diagnosis with features that correspond to recognizable neuropathological changes at postmortem (i.e., Lewy body pathology and nigrostriatal degeneration).
Abstract LRRK2-PD represents the most common form of autosomal dominant Parkinson’s disease. We identified the LRRK2 p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping data shared a common haplotype. The clinical presentation resembles other LRRK2-PD forms.
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