Table 2
Genetic profile of the cohorts.
| GENETIC VARIANT | PROTEIN LEVEL IDENTIFIER | |||
|---|---|---|---|---|
| Chinese cohort | c.156 C > A | p.Asn52Lys | Missense | |
| c.692A>G | p.Tyr231Cys | Missense | ||
| c.133_134dup | p.Pro46Alafs*6 | Frameshift | ||
| c.1929_1930del | p.Arg643fs* | Frameshift | ||
| c.1661A > C | p.Lys554Thr | Missense | ||
| c.2259C > G | p.Pro753Pro | Missense | ||
| European cohort | c.444_445del | p.Ala150Profs*11 | Frameshift | |
| c.1394del | p.Leu465Argfs*89 | Frameshift | ||
| c.2181G > A | p.Trp727* | Stop-gain | ||
| c.480delT | p.Asp161Thrfs*50 | Frameshift | ||
| c.1939C > T | p.Arg647* | Stop-gain | ||
| c.1389C > G | p.Tyr463* | Stop-gain | ||
| c.2140C > T | p.Gln714* | Stop-gain | ||
| c.721_727del | p.Gly241Serfs*47 | Frameshift | ||
| c.1903C>T | p.Arg635* | Stop-gain | ||
| c.244_259delinsGAGAGC | p.Lys82Glufs*124 | Frameshift | ||
| c.436del | p.Ile146Serfs*65 | Frameshift | ||
| c.455_462dup | p.Leu155Alafs*59 | Frameshift | ||
| c.559C > T | p.Arg187* | Stop-gain | ||
| c.1094_1095dup | p.Tyr366Serfs*12 | Frameshift | ||
| c.1335 T > G | p.Tyr455* | Stop-gain | ||
| c.1367 + 2 T > C | Splice-site loss | |||
| c.1612–1G > C | Splice-site loss | |||
| c.1720 + 1G > C | Splice-site loss | |||
| c.1988_1989insG | p.Asn663Lysfs*2 | Frameshift | ||
| c.559C>T | p.Arg187* | Stop-gain | ||
| Indian cohort | c.600C>A, p.Arg525Ter c.2170_2171del | p.Tyr200* p.Arg525Ter p.Lys724Glufs*44 | Stop-gain Stop-gain Frameshift | |
Table 1
Comparison of clinical features, imaging and genetic findings among the cohorts.
| INDIAN COHORT (n = 3) | CHINESE COHORT (n = 10) | EUROPEAN COHORT (n = 34) | |
|---|---|---|---|
| Age at presentation (years) (range)a | 31.8 ± 2.9 (29–34) | 32.8 ± 18.1 (9–65) | 40.9 ± 17.6 (7–76) |
| Age at onset (years) (range)a | 16.5 ± 8.5 (10–30) | 16.9 ± 12.4 (8–60) | 14.9 ± 11.4 (3–52) |
| Duration (years) (range)a | 11.3 ± 8.9 (4–26) | 12.4 ± 7.3 (1–35) | 20.9 ± 12.4 (4–70) |
| Males n (%) | 2 (66.7) | 5 (50) | 20 (58.8) |
| Clinical n (%) | |||
| Dystonia | 3 (100) | 10 (100) | 33 (97) |
| Site of onset | |||
| Cranial | 0 | 2 (20) | 9 (27.2) |
| Cervical | 0 | 5 (50) | 10 (30.3) |
| Limb | 3 (100) | 3 (30) | 14 (42.4) |
| Progression | |||
| Focal | 0 | 1/10 | 0 |
| Segmental | 1 (33.3) | 0 | 7 (21.2) |
| Generalized | 2 (66.7) | 9 (90) | 26 (78.8) |
| Myoclonus | 0 | 1 (10) | 5 (14.7) |
| Choreoathetosis | 0 | 0 | 1 (2.9) |
| Psychiatric disturbances | 0 | 0 | 7 (20.6) |
| Intellectual disability | 0 | 0 | 5 (14.7) |
| Epilepsy | 0 | 0 | 1 (2.9) |
| Spasticity | 0 | 0 | 1 (2.9) |
| Family history (n/%) | 0 | 6 (60) | 16 (47) |
| MRI n (%) | |||
| Normal | 2 (66.7) | 10 (100) | 26 (76.4) |
| GPi hypointensity | 1 (33.3) | 0 | 4 (11.7) |
| Cerebral atrophy | 0 | 0 | 4 (11.7) |
| Genetics n (%) | |||
| Variants | n = 3 | n = 6 | n = 20 |
| Missense | 0 | 4 (66.7) | 0 |
| Frameshift | 1 (33.3) | 2 (33.3) | 10 (50) |
| Stop-gain | 2 (66.7) | 0 | 7 (35) |
| Splice-site loss | 0 | 0 | 3 (15) |
| Homozygous | 0 | 1 (16.7) | 0 |
| Heterozygous | 3 (100) | 5 (88.3) | 20 (100) |
[i] a mean ± standard deviation.