Table 6.
Coexisting rare heterozygous alterations
| Patient ID | Form | AOO | Sex | Symptoms | Gene | Variant ID | Zygosity | Clinical significance | ACMG classification | MAF (non-Finnish) | Inheritance | Patients | Controls | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P50 | F | 60 | m | Short-term memory impairment, prefrontal symptoms, parkinsonism | C19ORF12 | p.P60A c.178C > G | het | D | LP | - | AR, AD | 1/54 | 0/137 | - |
| PARK7 | p.Ile91_Leu92fs c.273_274insA | het | D | P | - | AR | 1/54 | 0/137 | - | |||||
| P35 | S | 61 | m | Short-term memory impairment, visuospatial disturbancy, dyscalculia, apraxia | ABCA7 | p.D1957Y c.5869G > T | het | D | VUS | - | AD | 1/54 | 0/137 | - |
| LRRK2 | p.A1862V c.5585C > T | het | D | VUS | - | AD | 1/54 | 0/137 | - | |||||
| SPG11 | p.V2053M c.6157G > A rs149003934 | het | VUS | VUS | < 0.01 | AR | 1/54 | 0/137 | [24] |
From our biobanks, 55 healthy subjects and 82 patients without any neurodegenerative symptoms were selected as controls. F, familial, S; sporadic; AOO, age of onset; f, female; m, male; het., heterozygous; D, damaging; P, pathogenic; LP, likely pathogenic; VUS, variants with uncertain significance; AR, autosomal recessive; AD, autosomal dominant; MAF, minor allele frequency