Table 2.
Clinical features of Korean patients with SNCA duplication
| Case | #1 | #2 | #3 | #4 | #5 | #6 | |
|---|---|---|---|---|---|---|---|
| Sex | M | M | F | F | F | M | |
| Age of onset | 40 | 51 | 66 | 55 | 49 | 51 | |
| Family history | Y | N* | N* | N | N | N | |
| Initial symptoms | Bradykinesia | Y | Y | Y | NA | Y | Y |
| Rigidity | Y | Y | Y | Y | NA | NA | |
| Tremor | Y | Y | Y | Y | Y | Y | |
| Postural instability | Y | Y | NA | NA | NA | NA | |
| Disease Severity | Disease duration (yr) at the time of evaluation | 1 | 2 | 2 | 5 | 4 | 4 |
| UPDRS motor | 32 | 31 | 32 | 36 | NA | NA | |
| H&Y scale | 3 | 3 | 3 | 3 | 4 | 2 | |
| Nonmotor symptoms | RBD | NA | NA | NA | Y | Y | Y |
| Cognition | Y† | N (MMSE 26 at age 65) | Y † | Y (MMSE 18 at age 60) | Y (MMSE 8 at age 56) | Y (MMSE 11 at age 56) | |
| Urinary.Symptoms | Y | NA | NA | NA | NA | Y | |
| Orthostatic hypotension | Y | Y | Y | Y | Y | N | |
| Depression | NA | NA | Y | Y | NA | Y | |
| Constipation | NA | Y | Y | Y | NA | Y | |
| Other NMS | NA | anxiety | insomnia | NA | NA | NA | |
| Clinical features in disease course | Levodopa response | Y | Y | Y | NA | Y | NA |
| Wearing-off | Y | Y | NA | NA | Y | Y | |
| Dyskinesia | Y | Y | NA | NA | Y | NA | |
| Hallucination | Y | NA | NA | Y | Y | Y | |
| Freezing of Gait | NA | Y | NA | NA | Y | NA | |
| Pyramidal symptoms | Knee Jerk 3+/3+, Babinski sign (+/+) |
NA | NA | NA | NA | NA | |
| Axial symptoms | Dysphonia | NA | NA | NA | NA | NA | |
| EOM | cogwheel pursuit | DBN (Vib, HS) | NA | Hypometric saccade | NA | ocular flutter, hypometric saccade | |
| Brain Imaging | Brain MR | Y(+, cortical atrophy in P-O) | NA | Y(−) | Y(−) | NA | Y(+−, mild cerebellar atrophy) |
| CIT.PET | NA | Y(+) | NA | NA | NA | NA | |
| FDG.PET | NA | NA | NA | NA | Y(+,bilateral F-T-P decreased) | NA | |
*
Asymptomatic carrier among family members (#2: Brother, #3: Daughter)
†
MMSE scores were not available. A description of mild cognitive decline was found on the medical record.
Abbreviation: Y, symptom present; N, symptom not present; NA, not available; UPDRS, the Unified Parkinson’s Disease Rating Scale; H&Y, Hoehn and Yahr scale; RBD, Rapid eye movment sleep behavior disorder; MMSE, Mini-Mental State Examination; NMS, nonmotor symptoms; DBN (HS, Vib); downbeat nystagmus by head shaking or vibration stimuli; P-O, parietal, occipital lobes; F-T-O, frontal, temporal, occipital lobes