Table 3 Established monogenic PD genes (ordered alphabetically and by inheritance)^a.

Gene	Inheritance	Risk considerations
GBA1^b	AD	• More common in those w/ AJ ancestry • Cognitive impairment or dementia may be present • Can have earlier onset • Family history of GD may be observed since GBA1 is also associated with this AR disorder • Both mild and severe variants described • Almost all pathogenic variants are associated with both PD and GD, although there are exceptions • Reduced penetrance
LRRK2	AD	• More common in those w/ AJ or N. African Berber ancestry • Primary variant in Europeans is G2019S • Reduced penetrance
SNCA	AD	• First reported in a few Italian and Greek families; rare • Can have early onset • Duplications are common
VPS35	AD	• Rare • Can have earlier onset
DJ1	AR	• Rare • Early onset typical • Unclear if single variants increase PD risk
PINK1	AR	• Rare • Early onset typical • Unclear if single variants increase PD risk
PRKN	AR	• Most common AR PD gene • Early onset typical • Unclear if single variants increase PD risk • Deletions and duplications common

AD autosomal dominant, AJ Ashkenazi Jewish, AR autosomal recessive, GD Gaucher disease, PD Parkinson’s disease.
^aAdapted from Table 1 in “Parkinson Disease Overview” by Cook Shukla L, Schulze J, Farlow J, et al. 2004 May 25 [Updated 2019 Jul 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from https://www-ncbi-nlm-nih-gov.proxy.ulib.uits.iu.edu/books/NBK1223/.
^bDisagreement over whether GBA1 variants are risk factors or are monogenic related to their degree of penetrance.

Quick links

Search