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Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem assessment. One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle\u2010predominant dementia. \u03b1\u2010Synuclein\u2010containing pathological inclusions in these patients also were highly phosphorylated at Ser\u2010129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP\u201043 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with LRRK2 mutations. \u00a9 2008 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22096","type":"journal-article","created":{"date-parts":[[2008,11,12]],"date-time":"2008-11-12T21:43:04Z","timestamp":1226526184000},"page":"32-39","source":"Crossref","is-referenced-by-count":52,"title":["Clinical and pathological characteristics of patients with Leucine\u2010rich repeat kinase\u20102 mutations"],"prefix":"10.1002","volume":"24","author":[{"given":"Jason P.","family":"Covy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuxing","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa A.","family":"Waxman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard 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