Table 2.
Clinical characteristics of individuals in the MND cohorts.
| Individuals with C9ORF72HRE | Individuals without C9ORF72HRE | |||
|---|---|---|---|---|
| Without HTT IA | With HTT IA | Without HTT IA | With HTT IA | |
| Numbers | 283 | 17 | 476 | 34 |
| Percentage women (%) | 50,9 | 41,2 | 40.1 | 64.7 |
| Median age of onset (years) | 61.1 | 58.2 | 63.8 | 61.1 |
| Median disease duration in years (mean) | 2.4 (3.1) | 2.8 (3.2) | 3.0 (4.2) | 3.0 (3.1) |
| Spinal phenotype (%) | 55.6 | 66.7 | 65.6 | 71.8 |
| Bulbar phenotype (%) | 34.7 | 26.7 | 31.1 | 25 |
| Cognitive phenotype (%) | 9.3 | 6.7 | 1.2 | 3.1 |
| Respiratory phenotype (%) | 0.4 | 0 | 2.1 | 0 |
| Phenotype unknown (numbers) | 15 | 2 | 49 | 2 |
Individuals with reduced penetrance and full penetrance HTT alleles are described separately. C9ORF72HRE, hexanucleotide repeat expansion in the C9ORF72 gene; HTT, gene associated with Huntington’s disease; IA, allele within intermediate range.