Table 1.
Familial LD | Unaffected Relatives | Healthy Controls | |
---|---|---|---|
Number of participants | 21 | 21 | 32 |
Age (years; mean ± st. dev.) | 56.2 ± 15.8 | 48.5 ± 16.0 | 50.2 ± 11.0 |
Sex (female/male) | 19/2 | 17/4 | 20/12 |
Familial relationship | proband |
in relation to proband, 1 unaffected member per family 2 parents 9 children 9 siblings 1 first cousin once removed |
none |
Family history of dystonia (in relation to proband) | 15 families: 2 affected | none | |
4 families: 3 affected | |||
2 families: 4 affected | |||
_______________ | |||
8 families: parent/child | |||
5 families: sibling | |||
2 families: half-sibling | |||
2 families: grandparent | |||
1 family: aunt | |||
3 families: first cousin | |||
1 family: granduncle | |||
1 family: grandnephew | |||
1 family: first cousin once removed | |||
1 family: second cousin | |||
Dystonia type | 15 adductor: 6 abductor | N/A | N/A |
Symptom Onset (years; mean ± st. dev.) | 40.3 ± 17.3 | N/A | N/A |
Symptom Duration (years; mean ± st. dev.) | 15.9 ± 10.9 | N/A | N/A |
Genetic status | Negative for TOR1A/DYT1, TUBB4A/DYT4, THAP1/DYT6, GNAL/DYT25, KMT2B/DYT28 and GNAO1 mutations | ||
Language | Native English | ||
Cognitive status | Mini-Mental State Examination ≥27 |