Table 1.
Clinical Findings for PD Patients Carrying Variants in VPS35
| Family | Patient | Variation | AaO | DD | IS | B | R | RT | PI | L-Dopa/DA | Other Features |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A | 3017 | p.Asp620Asn | 48 | 7 | B | + | + | − | + | + | |
| A | 3019 | p.Asp620Asn | 40 | 5 | B | + | + | + | + | + | |
| A | 3020 | p.Asp620Asn | 46 | 7 | PI | + | + | − | + | + | |
| A | 3021 | p.Asp620Asn | 68 | 16 | PI | + | + | + | + | + | |
| A | 3049 | p.Asp620Asn | 49 | 4 | RT | + | + | + | − | + | |
| A | 3044 | p.Asp620Asn | 64 | 3 | PI | + | + | + | + | + | |
| A | 3045 | p.Asp620Asn | 63 | 1 | RT | + | − | + | − | + | action tremor since childhood |
| B | 2056 | p.Asp620Asn | 61 | 15 | RT | + | + | + | + | + | fluctuations, dyskinesias |
| B | 2057 | p.Asp620Asn | 56 | 8 | RT | + | + | + | + | + | fluctuations, dyskinesias |
| B | 2098 | p.Asp620Asn | 46 | 0.5 | RT | − | − | + | − | untreated | depression, action tremor, pathologic DAT SPECT |
| B | 2099 | p.Asp620Asn | 51 | 5 | B | + | + | + | − | + | fluctuations, pathologic DAT SPECT |
| C | 3022 | p.Asp620Asn | 61 | 5 | RT | + | + | + | − | + | dyskinesias |
| C | 3055 | p.Asp620Asn | 46 | 12 | RT | + | + | + | − | + | |
| C | 3054 | p.Asp620Asn | 53 | 9 | B | + | + | − | − | + | dyskinesias |
| C | 3056 | p.Asp620Asn | 43 | 10 | B | + | + | + | + | + | dyskinesias |
| 211 | p.Arg524Trp | 37 | 9 | MG | + | + | + | − | + | mild action tremor since youth; 75% motor improvement on levodopa-test; DBS for fluctuations and dyskinesias; pathologic DAT SPECT | |
| 524 | p.Leu774Met | 51 | 7 | RT | + | + | + | − | + | marked postural tremor | |
| 243 | p.Leu774Met | 73 | 9 | RT | + | + | + | + | + | dyskinesias, pathologic DAT SPECT | |
| 806 | p.Ile241Met | 72 | 2 | Postural tremor | + | − | + | + | + | hyposmia (6/12 sniffing sticks), DAT SPECT pathologic, pathologic crying | |
| 90/05 | p.Met57Ile | 62 | 13 | RT | + | + | + | + | + | dementia (MMSE 23), dysphagia and dysarthria, hyposmia by history, depression |
Abbreviations are as follows: AaO, age at onset; DD, disease duration in years; IS, initial symptoms; B, bradykiesia; R, rigidity; RT, resting tremor; PI, postural instability; L-Dopa/DA, response to L-Dopa and/or dopamine agonist; MG, micrographia; DBS, deep brain stimulation.