Learn More: Parkinson Disease

Parkinson Disease is the most common form of parkinsonism, a group of complex and progressive neurodegenerative disorder characterized by movement dysfunctions and cognitive changes.¹ Hallmark features include tremors, muscle rigidity, bradykinesia (slow movements), and postural instability. The clinical diagnosis of Parkinson Disease remains a challenge, as there are many causes of the disease and the symptoms can overlap with multiple other conditions.²

Genetics and Parkinson Disease

At present, established single gene causes of Parkinson Disease account for only a small portion of cases. Instead, Parkinson Disease is likely to arise from a combination of multiple genetic changes, in addition to environmental factors. As such, genetic testing should be considered on a family-by-family basis, with proper genetic counselling, and is not recommended for risk prediction in unaffected individuals with no family history of Parkinson disease.   

Reasons for Genetic Testing

Confirmation of a clinical diagnosis through genetic testing can direct medical management, help predict progression of the disease, and provide essential information related to risk for relatives. In particular, testing is recommended for:

• Individuals with a family history of Parkinson Disease and presentation of the most common clinical symptoms
• Individuals without a positive family history, but who have experienced the most common clinical symptoms
• Carrier testing may be possible in individuals with a family history, but it is more informative when a genetic cause has been identified in an affected relative. Predictive testing should be undertaken after appropriate genetic counselling (prenatal testing is possible in families with affected individuals where the genetic cause is identified).

 LifeLabs Genetics offers the following Next-Generation Sequencing panels (Sequencing and Copy Number Variant analyses)

• Parkinson Disease Panel: ATP13A2, ATP1A3, ATP6AP2, DCTN1, DNAJC6, FBXO7, FTL, FUS, GBA, GCH1, HTRA2, LRRK2, MAPT, PARK2, PARK7, PINK1, PLA2G6, PRKRA, SLC30A10, SLC6A3, SNCA, SNCB, SPR, SYNJ1, TAF1, TH, TMEM230, UCHL1, VPS35
• Broad Parkinson Disease Panel: A2M, AAAS, AFG3L2, APOE, APP, ATP13A2, ATP1A3, ATP6AP2, ATP7B, C19orf12, CHCHD10, CLN3, COASY, CP, CSF1R, CYP27A1, DCAF17, DCTN1, DDC, DNAJC5, DNAJC6, DNMT1, EIF4G1, FBXO7, FTL, FUS, GBA, GBA2, GCH1, GIGYF2, GRN, HTRA2, KIF1C, KIF5A, LRRK2, LYST, MAPT, MCCC1, MECP2, MICU1, MPV17, NOTCH3, NPC1, PARK2, PARK7, PINK1, PITX3, PLA2G6, POLG, PRKRA, PSEN1, PSEN2, PTS, QDPR, SLC16A2, SLC20A2, SLC30A10, SLC6A3, SMPD1, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TH, TMEM230, TREM2, TYROBP, UCHL1, VPS13A, VPS35, WDR45
• Combined Dystonia and Parkinson Disease Panel: ADCY5, ANO3, ARSA, ATM, ATP13A2, ATP1A3, ATP6AP2, ATP7B, CACNA1B, CIZ1, COL6A3, DCTN1, DNAJC6, FBXO7, FTL, FUS, GBA, GCDH, GCH1, GNAL, HPCA, HTRA2, KCNMA1, KCTD17, LRRK2, MAPT, PANK2, PARK2, PARK7, PINK1, PLA2G6, PNKD, PRKRA, PRRT2, RELN, SGCE, SLC2A1, SLC30A10, SLC6A3, SNCA, SNCB, SPR, SYNJ1, TAF1, TH, THAP1, TIMM8A, TMEM230, TOR1A, TUBB4A, UCHL1, VPS35

References

1. Farlow J, Pankratz ND, Wojcieszek J, and Foroud T (2004) Parkinson Disease Overview. [Updated 2014 Feb 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®
2. Grimes D, Gordon J, Snelgrove B, Lim-Carter I, Fon E, Martin W, et al. (2012) Canadian Guidelines on Parkinson’s Disease Introduction. Can J Neurol Sci. 39(Suppl. 4):S1-S30.