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Clinical and pathological characteristics of patients with Leucine-rich repeat kinase-2 mutations
| Content Provider | Scilit |
|---|---|
| Author | Covy, Jason P. Yuan, Wuxing Waxman, Elisa A. Hurtig, Howard I. Deerlin, Vivianna M. Van Giasson, Benoit I. |
| Copyright Year | 2008 |
| Description | Journal: Movement Disorders Mutations in LRRK2 are the single most common known cause of Parkinson's disease (PD). 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-predominant dementia. alpha-Synuclein-containing pathological inclusions in these patients also were highly phosphorylated at Ser-129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP-43 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. |
| Related Links | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2634827/pdf |
| Ending Page | 39 |
| Page Count | 8 |
| Starting Page | 32 |
| e-ISSN | 15318257 |
| DOI | 10.1002/mds.22096 |
| Journal | Movement Disorders |
| Issue Number | 1 |
| Volume Number | 24 |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2008-11-12 |
| Access Restriction | Open |
| Subject Keyword | Journal: Movement Disorders Clinical Neurology Parkinson's Disease/parkinsonism Parkinson's Disease with Dementia Leucine-rich Repeat Kinase-2 (lrrk2) |
| Content Type | Text |
| Resource Type | Article |
