Demographic and clinical features in carriers of pathogenic repeats, NOTCH2NLC and GIPC1 pathogenic expansions
| . | Tremor-associated carriers, n = 6 . | NOTCH2NLC carriers, n = 27 . | GIPC1 carriers, n = 3 . | P (All) . | Adj. P (tremor-associated versus NOTCH2NLC) . | Adj. P (tremor-associated versus GIPC1) . | Adj. P (NOTCH2NLC versus GIPC1) . |
|---|---|---|---|---|---|---|---|
| Sex, male, n (%) | 3 (50.0) | 10 (37.0) | 2 (66.7) | 0.614 | 0.659 | 1.000 | 0.548 |
| Age, years, mean (SD) | 51.0 (10.1) | 54.0 (14.5) | 45.7 (28.0) | 0.674 | 0.451 | 0.905 | 0.647 |
| Age at onset, years, mean (SD) | 34.8 (19.1) | 41.6 (13.7) | 44.3 (19.5) | 0.789 | 0.538 | 0.714 | 0.845 |
| Duration (SD) | 16.2 (15.2) | 12.4 (8.8) | 7.7 (4.2) | 0.603 | 0.982 | 0.548 | 0.315 |
| Education, years, mean (SD) | 10.6 (2.9) | 10.3 (4.0) | 9.0 (1.0) | 0.712 | 0.960 | 0.571 | 0.467 |
| Head, n (%) | 2 (33.3) | 10 (27.0) | 1 (33.3) | 1.000 | 1.000 | 1.000 | 1.000 |
| Face, n (%) | 1 (16.7) | 13 (48.1) | 0 (0.0) | 0.168 | 0.209 | 1.000 | 0.238 |
| Voice, n (%) | 3 (50.0) | 10 (37.0) | 0 (0.0) | 0.437 | 0.659 | 0.464 | 0.532 |
| Upper limbs, n (%) | 6 (100.0） | 27 (100.0) | 3 (100.0) | NA | NA | NA | NA |
| Lower limbs, n (%) | 3 (50.0) | 12 (48.1) | 0 (0.0) | 0.439 | 1.000 | 0.464 | 0.238 |
| Postural tremor, n (%) | 6 (100.0） | 27 (100.0) | 3 (100.0) | NA | NA | NA | NA |
| Kinetic tremor, n (%) | 6 (100.0） | 24 (88.9) | 3 (100.0) | NA | 1.000 | NA | 1.000 |
| Intention tremor, n (%) | 4 (66.7) | 14 (51.9) | 3 (100.0) | 0.271 | 0.665 | 0.500 | 0.238 |
| TETRAS-I (SD) | 16.3 (11.4) | 27.1 (11.9) | 9.3 (7.2) | 0.037 | 0.109 | 0.393 | 0.026 |
| TETRAS-II (SD) | 19.0 (9.7) | 29.3 (12.0) | 13.0 (7.2) | 0.060 | 0.122 | 0.393 | 0.061 |
| MMSE (SD) | 27.7 (2.1) | 25.7 (3.0) | 21.3 (10.7) | 0.398 | 0.201 | 0.393 | 1.000 |
| NMSS (SD) | 5.2 (5.3) | 23.4 (19.9) | 10.0 (2.6) | 0.003 | 0.001 | 0.262 | 0.072 |
| ET-plus, n (%) | 1 (16.7) | 18 (66.7) | 0 (0.0) | 0.013 | 0.062 | 1.000 | 0.054 |
| Dystonia, n (%) | 0 (0.0) | 4 (14.8) | 0 (0.0) | 1.000 | 1.000 | NA | 1.000 |
| MCI, n (%) | 0 (0.0) | 2 (7.4) | 3 (0.0) | 1.000 | 1.000 | NA | 1.000 |
| Tandem repeat, n (%) | 0 (0.0) | 5 (18.5) | 0 (0.0) | 0.721 | 0.556 | NA | 1.000 |
| Rest tremor, n (%) | 1 (16.7) | 9 (33.3) | 0 (0.0) | 0.555 | 0.640 | 1.000 | 0.534 |
| . | Tremor-associated carriers, n = 6 . | NOTCH2NLC carriers, n = 27 . | GIPC1 carriers, n = 3 . | P (All) . | Adj. P (tremor-associated versus NOTCH2NLC) . | Adj. P (tremor-associated versus GIPC1) . | Adj. P (NOTCH2NLC versus GIPC1) . |
|---|---|---|---|---|---|---|---|
| Sex, male, n (%) | 3 (50.0) | 10 (37.0) | 2 (66.7) | 0.614 | 0.659 | 1.000 | 0.548 |
| Age, years, mean (SD) | 51.0 (10.1) | 54.0 (14.5) | 45.7 (28.0) | 0.674 | 0.451 | 0.905 | 0.647 |
| Age at onset, years, mean (SD) | 34.8 (19.1) | 41.6 (13.7) | 44.3 (19.5) | 0.789 | 0.538 | 0.714 | 0.845 |
| Duration (SD) | 16.2 (15.2) | 12.4 (8.8) | 7.7 (4.2) | 0.603 | 0.982 | 0.548 | 0.315 |
| Education, years, mean (SD) | 10.6 (2.9) | 10.3 (4.0) | 9.0 (1.0) | 0.712 | 0.960 | 0.571 | 0.467 |
| Head, n (%) | 2 (33.3) | 10 (27.0) | 1 (33.3) | 1.000 | 1.000 | 1.000 | 1.000 |
| Face, n (%) | 1 (16.7) | 13 (48.1) | 0 (0.0) | 0.168 | 0.209 | 1.000 | 0.238 |
| Voice, n (%) | 3 (50.0) | 10 (37.0) | 0 (0.0) | 0.437 | 0.659 | 0.464 | 0.532 |
| Upper limbs, n (%) | 6 (100.0） | 27 (100.0) | 3 (100.0) | NA | NA | NA | NA |
| Lower limbs, n (%) | 3 (50.0) | 12 (48.1) | 0 (0.0) | 0.439 | 1.000 | 0.464 | 0.238 |
| Postural tremor, n (%) | 6 (100.0） | 27 (100.0) | 3 (100.0) | NA | NA | NA | NA |
| Kinetic tremor, n (%) | 6 (100.0） | 24 (88.9) | 3 (100.0) | NA | 1.000 | NA | 1.000 |
| Intention tremor, n (%) | 4 (66.7) | 14 (51.9) | 3 (100.0) | 0.271 | 0.665 | 0.500 | 0.238 |
| TETRAS-I (SD) | 16.3 (11.4) | 27.1 (11.9) | 9.3 (7.2) | 0.037 | 0.109 | 0.393 | 0.026 |
| TETRAS-II (SD) | 19.0 (9.7) | 29.3 (12.0) | 13.0 (7.2) | 0.060 | 0.122 | 0.393 | 0.061 |
| MMSE (SD) | 27.7 (2.1) | 25.7 (3.0) | 21.3 (10.7) | 0.398 | 0.201 | 0.393 | 1.000 |
| NMSS (SD) | 5.2 (5.3) | 23.4 (19.9) | 10.0 (2.6) | 0.003 | 0.001 | 0.262 | 0.072 |
| ET-plus, n (%) | 1 (16.7) | 18 (66.7) | 0 (0.0) | 0.013 | 0.062 | 1.000 | 0.054 |
| Dystonia, n (%) | 0 (0.0) | 4 (14.8) | 0 (0.0) | 1.000 | 1.000 | NA | 1.000 |
| MCI, n (%) | 0 (0.0) | 2 (7.4) | 3 (0.0) | 1.000 | 1.000 | NA | 1.000 |
| Tandem repeat, n (%) | 0 (0.0) | 5 (18.5) | 0 (0.0) | 0.721 | 0.556 | NA | 1.000 |
| Rest tremor, n (%) | 1 (16.7) | 9 (33.3) | 0 (0.0) | 0.555 | 0.640 | 1.000 | 0.534 |
Adj. P = adjusted P (statistically significant cut-off of P < 0.017 by Bonferroni correction). Bold P value indicates statistical significance.
IA, intermediate allele; SD, standard deviation; ET, essential tremor; TETRAS, Tremor Research Group Essential Tremor Rating Assessment Scale; MMSE, Mini-Mental State Examination; NMSS, Non-Motor Symptoms Scale; MCI, mild cognitive impairment; NA, data not available.
Demographic and clinical features in carriers of pathogenic repeats, NOTCH2NLC and GIPC1 pathogenic expansions
| . | Tremor-associated carriers, n = 6 . | NOTCH2NLC carriers, n = 27 . | GIPC1 carriers, n = 3 . | P (All) . | Adj. P (tremor-associated versus NOTCH2NLC) . | Adj. P (tremor-associated versus GIPC1) . | Adj. P (NOTCH2NLC versus GIPC1) . |
|---|---|---|---|---|---|---|---|
| Sex, male, n (%) | 3 (50.0) | 10 (37.0) | 2 (66.7) | 0.614 | 0.659 | 1.000 | 0.548 |
| Age, years, mean (SD) | 51.0 (10.1) | 54.0 (14.5) | 45.7 (28.0) | 0.674 | 0.451 | 0.905 | 0.647 |
| Age at onset, years, mean (SD) | 34.8 (19.1) | 41.6 (13.7) | 44.3 (19.5) | 0.789 | 0.538 | 0.714 | 0.845 |
| Duration (SD) | 16.2 (15.2) | 12.4 (8.8) | 7.7 (4.2) | 0.603 | 0.982 | 0.548 | 0.315 |
| Education, years, mean (SD) | 10.6 (2.9) | 10.3 (4.0) | 9.0 (1.0) | 0.712 | 0.960 | 0.571 | 0.467 |
| Head, n (%) | 2 (33.3) | 10 (27.0) | 1 (33.3) | 1.000 | 1.000 | 1.000 | 1.000 |
| Face, n (%) | 1 (16.7) | 13 (48.1) | 0 (0.0) | 0.168 | 0.209 | 1.000 | 0.238 |
| Voice, n (%) | 3 (50.0) | 10 (37.0) | 0 (0.0) | 0.437 | 0.659 | 0.464 | 0.532 |
| Upper limbs, n (%) | 6 (100.0） | 27 (100.0) | 3 (100.0) | NA | NA | NA | NA |
| Lower limbs, n (%) | 3 (50.0) | 12 (48.1) | 0 (0.0) | 0.439 | 1.000 | 0.464 | 0.238 |
| Postural tremor, n (%) | 6 (100.0） | 27 (100.0) | 3 (100.0) | NA | NA | NA | NA |
| Kinetic tremor, n (%) | 6 (100.0） | 24 (88.9) | 3 (100.0) | NA | 1.000 | NA | 1.000 |
| Intention tremor, n (%) | 4 (66.7) | 14 (51.9) | 3 (100.0) | 0.271 | 0.665 | 0.500 | 0.238 |
| TETRAS-I (SD) | 16.3 (11.4) | 27.1 (11.9) | 9.3 (7.2) | 0.037 | 0.109 | 0.393 | 0.026 |
| TETRAS-II (SD) | 19.0 (9.7) | 29.3 (12.0) | 13.0 (7.2) | 0.060 | 0.122 | 0.393 | 0.061 |
| MMSE (SD) | 27.7 (2.1) | 25.7 (3.0) | 21.3 (10.7) | 0.398 | 0.201 | 0.393 | 1.000 |
| NMSS (SD) | 5.2 (5.3) | 23.4 (19.9) | 10.0 (2.6) | 0.003 | 0.001 | 0.262 | 0.072 |
| ET-plus, n (%) | 1 (16.7) | 18 (66.7) | 0 (0.0) | 0.013 | 0.062 | 1.000 | 0.054 |
| Dystonia, n (%) | 0 (0.0) | 4 (14.8) | 0 (0.0) | 1.000 | 1.000 | NA | 1.000 |
| MCI, n (%) | 0 (0.0) | 2 (7.4) | 3 (0.0) | 1.000 | 1.000 | NA | 1.000 |
| Tandem repeat, n (%) | 0 (0.0) | 5 (18.5) | 0 (0.0) | 0.721 | 0.556 | NA | 1.000 |
| Rest tremor, n (%) | 1 (16.7) | 9 (33.3) | 0 (0.0) | 0.555 | 0.640 | 1.000 | 0.534 |
| . | Tremor-associated carriers, n = 6 . | NOTCH2NLC carriers, n = 27 . | GIPC1 carriers, n = 3 . | P (All) . | Adj. P (tremor-associated versus NOTCH2NLC) . | Adj. P (tremor-associated versus GIPC1) . | Adj. P (NOTCH2NLC versus GIPC1) . |
|---|---|---|---|---|---|---|---|
| Sex, male, n (%) | 3 (50.0) | 10 (37.0) | 2 (66.7) | 0.614 | 0.659 | 1.000 | 0.548 |
| Age, years, mean (SD) | 51.0 (10.1) | 54.0 (14.5) | 45.7 (28.0) | 0.674 | 0.451 | 0.905 | 0.647 |
| Age at onset, years, mean (SD) | 34.8 (19.1) | 41.6 (13.7) | 44.3 (19.5) | 0.789 | 0.538 | 0.714 | 0.845 |
| Duration (SD) | 16.2 (15.2) | 12.4 (8.8) | 7.7 (4.2) | 0.603 | 0.982 | 0.548 | 0.315 |
| Education, years, mean (SD) | 10.6 (2.9) | 10.3 (4.0) | 9.0 (1.0) | 0.712 | 0.960 | 0.571 | 0.467 |
| Head, n (%) | 2 (33.3) | 10 (27.0) | 1 (33.3) | 1.000 | 1.000 | 1.000 | 1.000 |
| Face, n (%) | 1 (16.7) | 13 (48.1) | 0 (0.0) | 0.168 | 0.209 | 1.000 | 0.238 |
| Voice, n (%) | 3 (50.0) | 10 (37.0) | 0 (0.0) | 0.437 | 0.659 | 0.464 | 0.532 |
| Upper limbs, n (%) | 6 (100.0） | 27 (100.0) | 3 (100.0) | NA | NA | NA | NA |
| Lower limbs, n (%) | 3 (50.0) | 12 (48.1) | 0 (0.0) | 0.439 | 1.000 | 0.464 | 0.238 |
| Postural tremor, n (%) | 6 (100.0） | 27 (100.0) | 3 (100.0) | NA | NA | NA | NA |
| Kinetic tremor, n (%) | 6 (100.0） | 24 (88.9) | 3 (100.0) | NA | 1.000 | NA | 1.000 |
| Intention tremor, n (%) | 4 (66.7) | 14 (51.9) | 3 (100.0) | 0.271 | 0.665 | 0.500 | 0.238 |
| TETRAS-I (SD) | 16.3 (11.4) | 27.1 (11.9) | 9.3 (7.2) | 0.037 | 0.109 | 0.393 | 0.026 |
| TETRAS-II (SD) | 19.0 (9.7) | 29.3 (12.0) | 13.0 (7.2) | 0.060 | 0.122 | 0.393 | 0.061 |
| MMSE (SD) | 27.7 (2.1) | 25.7 (3.0) | 21.3 (10.7) | 0.398 | 0.201 | 0.393 | 1.000 |
| NMSS (SD) | 5.2 (5.3) | 23.4 (19.9) | 10.0 (2.6) | 0.003 | 0.001 | 0.262 | 0.072 |
| ET-plus, n (%) | 1 (16.7) | 18 (66.7) | 0 (0.0) | 0.013 | 0.062 | 1.000 | 0.054 |
| Dystonia, n (%) | 0 (0.0) | 4 (14.8) | 0 (0.0) | 1.000 | 1.000 | NA | 1.000 |
| MCI, n (%) | 0 (0.0) | 2 (7.4) | 3 (0.0) | 1.000 | 1.000 | NA | 1.000 |
| Tandem repeat, n (%) | 0 (0.0) | 5 (18.5) | 0 (0.0) | 0.721 | 0.556 | NA | 1.000 |
| Rest tremor, n (%) | 1 (16.7) | 9 (33.3) | 0 (0.0) | 0.555 | 0.640 | 1.000 | 0.534 |
Adj. P = adjusted P (statistically significant cut-off of P < 0.017 by Bonferroni correction). Bold P value indicates statistical significance.
IA, intermediate allele; SD, standard deviation; ET, essential tremor; TETRAS, Tremor Research Group Essential Tremor Rating Assessment Scale; MMSE, Mini-Mental State Examination; NMSS, Non-Motor Symptoms Scale; MCI, mild cognitive impairment; NA, data not available.
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