Table 1.
Characteristics and results of reviewed cohorts that included clinically diagnosed patients with Parkinson's disease
| Study | Country/ethnicity | Population description | Subjects (n=) | Mean AAO ± SD [range], in years | Diagnostic criteria | Definition of pathogenic expansions | Number of positive cases (repeat count) | Prevalence | Family history of positive cases | Number of intermediate expansion carriers (repeat count); features & history |
|---|---|---|---|---|---|---|---|---|---|---|
| Xi et al., 2012 | United States & Europe (Caucasians) | Sporadic & familial PD | 289 (incl. 116 familial) | 52.6 ± 13 | n.m. | >30 repeats | 2 (RC: 32, 39) | 0.7% (0.9% in familial PD) | 1/2 positive for PD, 1/2 negative | 4 (RC: 20–29); 2/4 early severe dementia |
| Lesage et al., 2013 | France | Sporadic & familial PD | 1225 | 48.3 ± 12.5 [6–86] | UKPDBB | ≥60 repeats | 3 | 0.2% | 3/3 positive family history of complex phenotypes | 0 |
| Akimoto et al., 2013 | Sweden | Sporadic PD | 135 | 70.5 ± 9.5 [41–90] | UKPDBB | Sawtooth pattern | 0 | 0% | n.a. | 2.2%, no further details given |
| Majounie et al., 2015 | United States (Caucasians) | Sporadic & familial PD | 781 (incl. 254 familial) | 60 [12–91] | n.m. | Sawtooth pattern, >30 repeats | 0 | 0% | n.a. | 4 (RC:21, 23, 24, 38) |
| Dejesus‐Hernandez et al., 2013 | United States (Caucasians) | PD | 676 | 69 ± 11 | n.m. | Sawtooth pattern | 0 | 0% | n.a. | n.m. |
| Nuytemans et al., 2013 | United States (Caucasians) | PD | 889 | 53.6 [10–85] | n.m. | >30 repeats | 0 | 0% | n.a. | 13 (RC: 21–30+); typical dopa‐responsive PD |
| Harms et al., 2013 | United States (99.8% Caucasians) | PD | 478 | 61.3 ± 10.6 | UKPDBB | Sawtooth pattern, >30 repeats | 0 | 0% | n.a. | n.m. |
| Daoud et al., 2013 | Canada (French‐Canadians) | Sporadic PD | 285 | 57.5 [24–83] | Ward & Gibb | Sawtooth pattern, >30 repeats | 0 | 0% | n.a. | 1 (RC: 24) |
| Alavi et al., 2017 | Iran | Sporadic & familial PD | 186 | 49.9 ± 13.2 [7–85] | n.m. | Sawtooth pattern, >20 repeats | 0 | 0% | n.a. | n.m. |
| Yeh et al., 2013 | Taiwan | Sporadic PDD | 71 | 60.1 ± 9.3 | n.m. | Sawtooth pattern | 0 | 0% | n.a. | n.m. |
| Chen et al., 2016 | China | Sporadic PD | 619 | 58.1 ± 10.9 | UKPDBB | >30 repeats | 0 | 0% | n.a. | n.m. |
| Jiao et al., 2013 | China | Sporadic PD | 911 | 55.1 ± 11.7 | UKPDBB | >30 repeats | 0 | 0% | n.a. | 5 (RC:18, 19, 22, 23, 27) |
| Lin et al., 2014 | Taiwan | Sporadic EOPD | 201 | 42.5 ± 5.2 | UKPDBB | >30 repeats | 0 | 0% | n.a. | 1 (RC: 25); typical dopa‐responsive PD |
| Lin et al., 2014 | Taiwan | Familial PD | 109 | 66.5 ± 12.2 | UKPDBB | >30 repeats | 0 | 0% | n.a. | n.m. |
Abbreviations: PD, Parkinson's disease; PDD, Parkinson's disease with dementia; EOPD, early onset Parkinson's disease; UKPDBB, UK Parkinson's disease brain bank; AAO, age at onset; SD, standard deviation; RC, repeat count; n.m., not mentioned; n.a., not applicable.