Table 2. Clinical and laboratory features of Patients 1 and 2.
| Patient 1 | Patient 2 | |
|---|---|---|
| LRRK2 mutation | G2019S | R793M |
| Clinical diagnosis | Corticobasal syndrome | Primary progressive aphasia |
| Age at onset, y/sex | 52/F | 66/F |
| Family history | Dementia (mother, grandmother) | Parkinson (father) |
| Chief complaint | Poor planning, memory | Hesitant speech |
| Parkinsonian features | ||
| Bradykinesia | Yes | No |
| Rigidity | Yes | No |
| Rest tremor | No | No |
| Response to levodopa | No | N/T |
| Cognitive features | ||
| Digit span | 3 forward, 0 backward | 5 forward, 3 backward |
| Recall of six-word list | 0/6 | 4/6 |
| Naming | Impaired | Impaired |
| Repetition | Impaired | Intact |
| Comprehension | Impaired | Mildly impaired |
| Written sentence | N/T | Intact |
| Reading | N/T | Mildly impaired |
| Other clinical features | None | Intention tremor |
| Laboratory features | ||
| CSF protein (mg/dL) | 30 | 55 |
| CSF glucose (mg/dL) | 62 | 63 |
| CSF WBC (cells/mm3) | 0 | 0 |
| CSF RBC (cells/mm3) | 0 | 4 |
| CSF total tau (pg/mL) | 189.1 | Too low to quantify |
| CSF phosphorylated tau (pg/mL) | 70.6 | 49.5 |
| CSF Aβ 42 (pg/mL) | 51.2 | 68.7 |
| Serum testing | B12, folate, RPR, Lyme, TSH, ANA within normal limits | B12, TSH within normal limits |
| Progranulin gene testing | No mutation | No mutation |
| Tau gene testing | No mutation | No mutation |
Examination findings are from initial neurologic examination. Recall of six-word list is best of three tries. As reported previously, mean levels in normal controls (with standard deviations) are CSF tau = 260.4 (±93.8) pg/mL, CSF phosphorylated tau = 50.1 (±14.3) pg/Ml, and CSF Aβ42 = 95.2 (±29.7) pg/mL.24
N/T = not tested; CSF Aβ42 = CSF amyloid β1-42.