Table 3.
Form | Gene | Mode of inheritance | Age of onset | Number of patients in MDSGene (www.mdsgene.org) |
---|---|---|---|---|
PARK-LRRK2 | LRRK2 | Autosomal dominant with reduced penetrance* | Median: 57; 25th/75th percentile: 47/65 (range: 24–91 years) | 723 |
PARK-SNCA | SNCA | Autosomal dominant with reduced penetrance* | Median: 46; 25th/75th percentile: 36/54 (range: 19–77 years) | 146 |
PARK-VPS35 | VPS35 | Autosomal dominant with reduced penetrance* | Median: 52; 25th/75th percentile: 45/61 (range: 26–75 years) | 68 |
PARK-DJ1 | DJ1 (PARK7) | Autosomal recessive with high penetrance | Median: 27; 25th/75th percentile: 22/34 (range: 14–40 years) | 35 |
PARK-PRKN | PRKN | Autosomal recessive with high penetrance | Median: 31; 25th/75th percentile: 23/38 (range: 3–81 years) | 1487 |
PARK-PINK1 | PINK1 | Autosomal recessive with high penetrance | Median: 32; 25th/75th percentile: 25/40 (range: 9–67 years) | 180 |
*With the exception of SNCA triplication and pathogenic single nucleotide variants in SNCA, which are fully penetrant