Table 1. Summary of cases with LRRK2 mutations.
| Patient/case | Clinical or pathologic diagnosis | Sample | Age at onset, y | Gender | LRRK2 mutations |
|---|---|---|---|---|---|
| 1 | CBS | Blood | 52 | F | p.G2019S |
| 2 | FTD (PPA) | Blood | 66 | F | p.R793M |
| 3 | PD | Blood | 44 | F | p.G2019S |
| 4 | PD | Brain | 47 | M | p.G2019S |
| 5 | PD | Brain | 59 | M | p.G2019S |
| 6 | PD | Brain | 77 | F | p.R793M |
| 7 | PD | Brain | 76 | M | p.G2019S |
| 8 | PD | Brain | 47 | M | p.L1165P |
Case 3 is homozygous for G2019S. Cases 4, 5, and 7 are described in detail in a previous publication.22 Cases 4 through 8 are autopsy cases, while Cases 1 through 3 are clinical. Case 8 has a LRRK2 variant which has not been previously reported and is under further study.
CBS = corticobasal syndrome; FTD = frontotemporal dementia; PPA = primary progressive aphasia; PD = Parkinson disease.