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. 2024 Sep 19;271(11):7102–7119. doi: 10.1007/s00415-024-12687-5

Table 3.

Hereditary PD, causal genes, mode of inheritance, age of onset, number of patients, as analyzed in MDSGene

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