Table 1. Summary of Demographic and Clinical Findings.
| Reference | Patient | Gender/Age at Onset | Presenting Symptom | Parkinsonism | Tremor at Rest | LD/LID | Ataxia | Dystonia | Pyramidal Signs | Poor balance | Myoclonus | Oculomotor Abnormality | Autonomic |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Paisán-Ruiz et al.8 | F1/P1 | F/26 | Cognitive decline | + | + | +/+ | – | + | + | + | +(Facial) | SNGP/LOA | – |
| Paisán-Ruiz et al.8 | F1/P2 | F/10 | Foot drag | + | + | +/+ | – | + | NK | + | NK | NK | NK |
| Paisán-Ruiz et al.8 | F2/P1 | F/18 | Foot drag | + | + | DA/- | – | + | + | + | – | Jerky saccadic | Frequency and nocturia |
| Sina et al.9 | P1 | M/25 | Foot drag | + | + | +/+ | – | + | + | + | – | Fragmented saccades | NK |
| Sina et al.9 | P2 | M/22 | Foot drag | + | + | +/+ | – | + | + | + | – | Fragmented saccades | NK |
| Sina et al.9 | P3 | F/21 | Foot drag | + | + | +/+ | + | + | + | + | – | Fragmented saccades | – |
| Bower et al.10 | P1 | F/18 | Depression | + | – | NM | – | + | + | + | NM | – | NM |
| Bower et al.10 | P2 | F/4 | Dyslexia, stuttering, clumsiness | + | + | NM | + | + | – | + | NM | Saccadic pursuit | NM |
| Yoshino et al.11 | PA | F/20 | Tremor at rest, unsteady gait | + | + | +/+ | – | – | – | + | – | – | Urinary disturbance/Constipation/OH |
| Yoshino et al.11 | PB1 | M/25 | Bradykinesia, gait problem | + | – | +/+ | – | – | – | + | – | – | Urinary disturbance |
| Yoshino et al.11 | PB2 | M/30 | Bradykinesia, gait problem | + | – | +/+ | – | – | – | + | – | – | Urinary disturbance/Constipation/OH |
| Shi et al.12 | P | M/37 | Foot drag | + | + | +/+ | – | – | – | + | – | – | – |
| Virmani et al.13 | P1 | F/25 | Depression and psychosis | + | + | +/– | – | + | + | + | + (Face and limbs) | Jerky pursuit, OGC with levodopa | – |
| Virmani et al.13 | P2 | F/22 | Depression | + | + | +/– | – | + | + | + | – | – | – |
| Agarwal et al.14 | P1 | M/14 | Depression | + | – | + | – | + | + | – | +(Hand) | SNGP/LOA | – |
| Lu et al.15 | P1 | F/30 | Right hand awkwardness | + | – | +/+ | – | – | – | NM | – | – | – |
| Lu et al.15 | P2 | F/8 | Unsteady and slow | + | + | +/+ | + | + | – | NM | – | – | + |
| Lu et al.15 | P3 | F/19 | Unsteady and slow | + | + | +/+ | + | + | – | NM | – | Nystagmus | + |
| Kim et al.16 | P1 | F/22 | Unsteady gait and fall | + | – | +/– | + | + | + | + | – | – | – |
| Kim et al.16 | P2 | M/6 | Unsteady gait and fall | + | – | NK | + | + | – | + | – | – | – |
| Malaguti et al.17 | P | F/27 | Urge incontinence, stiff leg | + | – | +/− | – | + | + | + | – | Slow saccades | Urge incontinence |
| Xie et al.18 | PA | M/36 | Foot drag | + | + | +/NM | – | – | – | + | – | – | – |
| Xie et al.18 | PB | M/36 | Tremor at rest | + | + | +/NM | – | – | – | + | – | – | – |
| Our patient | P | M/16 | Foot drag and blepharospasm | + | + | –/– | – | + | + | + | + (Face, hands) | – | – |
DA, Dopamine agonist; F, Female; F1 and F2, Family 1 and Family 2; LD, Levodopa Response; LID, Levodopa-induced Dyskinesia; LOA, Lid Opening Apraxia; M, Male; NK, Not Known (data not available for the original article’s authors); NM, Not Mentioned (data not mentioned in the original article); OGC, Oculogyric Crisis; OH, Orthostatic Hypotension; P, Patient; PA and PB, Patient A and B; SNGP, Supranuclear Gaze Palsy; +, Positive; –, Negative.