User:SLE346 B2/sandbox
| Locus | Gene | Function | Mutations | Clinical Presentations | Neuropathology | Age at onset |
|---|---|---|---|---|---|---|
| PARK1[1] | SNCA [2] (α-synuclein) | Unknown synaptic function | Duplications | Ideopathic PD; some postural tremor; slow progression | LBs | Mid 20 - 30 |
| Triplications | PD (Parkinson's Disease); PD with dementia;diffuse LBs disease;aggressive course | LBs and Lewy neurites; ± glial inclusions; hippocampal CA2 and CA3 loss | Mid 20's - 30's | |||
| A53T, A30P E46K [3] [4] | Idiopathic PD; early on set parkinsonism and diffuse LBs | LBs and LNs; ± tau inclusions; amyloid plaques | 30 - 60 | |||
| PARK2[1] | Parkin [5] | E3 ubiquitin ligase[6] | 200+ possible mutations including:[6]
- Inactivating somatic mutations - Frequent intragenic deletions |
Early on set Parkinsonism; slow progression PD | variable presence of LBs | Juvenile to 40 |
| PARK5[1] | UCHL1 | deubiquitinating enzyme | PD | Unknown | 30 - 50 | |
| PARK6[1] | PINK1 [7] | mitochondrial Ser-Thr Kinase | 40+ mutations[7]
-Mostly point mutations -Deletions on C-terminus Kinase domain |
Parkinsonism | Unknown | 30 - 50 |
| PARK7[1] | DJ-1 [8] | oxidative stress response? | -10 point mutations including C46A, C53A, C106 & WT regions [8]
- Large deletion in L166P |
Early on set Parkinsonism | Unknown | 20 - 40 |
| PARK8[1] | LRRK2 (dardarin) | unknown protein kinase | PD | Diffuse LBs; LNs; ± tau inclusions; ± amyloid plaques | 40 - 60 |
- ^ a b c d e f Wood-Kaczmar, A.; Gandhi, S.; Wood, N. W. (2006 Nov). "Understanding the molecular causes of Parkinson's disease". Trends in Molecular Medicine. 12 (11): 521–8. doi:10.1016/j.molmed.2006.09.007. PMID 17027339.
{{cite journal}}: Check date values in:|date=(help) - ^ Cookson, MR (2005). "The biochemistry of Parkinson's disease". Annual Review of Biochemistry. 74: 29–52. doi:10.1146/annurev.biochem.74.082803.133400. PMID 15952880.
- ^ Lesage, S (2009 Apr 15). "Parkinson's disease: from monogenic forms to genetic susceptibility factors". Human Molecular Genetics. 18 (R1): R48-59. doi:10.1093/hmg/ddp012. PMID 19297401.
{{cite journal}}: Check date values in:|date=(help); Unknown parameter|coauthors=ignored (|author=suggested) (help) - ^ Teismann, P.; Schulz, J. B. (2004 Oct). "Cellular pathology of Parkinson's disease: astrocytes, microglia and inflammation". Cell and Tissue Research. 318 (1): 149–61. doi:10.1007/s00441-004-0944-0. PMID 15338271.
{{cite journal}}: Check date values in:|date=(help) - ^ Thompson, S. J.; Loftus, L. T.; Ashley, M. D.; Meller, R. (2008 Feb). "Ubiquitin-proteasome system as a modulator of cell fate". Current Opinion in Pharmacology. 8 (1): 90–5. doi:10.1016/j.coph.2007.09.010. PMC 2265078. PMID 17981502.
{{cite journal}}: Check date values in:|date=(help) - ^ a b Kim, S. Y.; Seong, M. W.; Jeon, B. S.; Kim, S. Y.; Ko, H. S.; Kim, J. Y.; Park, S. S. (2012 Jul). "Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease". Clinical Genetics. 82 (1): 77–82. doi:10.1111/j.1399-0004.2011.01693.x. PMID 21534944.
{{cite journal}}: Check date values in:|date=(help) - ^ a b Hatano, Y.; Li, Y.; Sato, K.; Asakawa, S.; Yamamura, Y.; Tomiyama, H.; Yoshino, H.; Asahina, M.; Kobayashi, S.; Hassin-Baer, S.; Lu, C. S.; Ng, A. R.; Rosales, R. L.; Shimizu, N.; Toda, T.; Mizuno, Y.; Hattori, N. (2004 Sep). "Novel PINK1 mutations in early-onset parkinsonism". Annals of Neurology. 56 (3): 424–7. doi:10.1002/ana.20251. PMID 15349870.
{{cite journal}}: Check date values in:|date=(help) - ^ a b Bonifati, V.; Rizzu, P.; Van Baren, M. J.; Schaap, O.; Breedveld, G. J.; Krieger, E.; Dekker, M. C.; Squitieri, F.; Ibanez, P.; Joosse, M.; Van Dongen, J. W.; Vanacore, N.; Van Swieten, J. C.; Brice, A.; Meco, G.; Van Duijn, C. M.; Oostra, B. A.; Heutink, P. (2003 Jan 10). "Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism". Science (New York, N.Y.). 299 (5604): 256–9. doi:10.1126/science.1077209. PMID 12446870.
{{cite journal}}: Check date values in:|date=(help)