Quantitative PCR-based screening of α-synuclein multiplication in multiple system atrophy

Parkinsonism and Related Disorders

Volumn 13, Issue 6, 2007, Pages 340-342

  Lincoln, Sarah J ^a   Ross, Owen A ^a   Milkovic, Nicole M ^a   Dickson, Dennis W ^b   Rajput, Alex ^c,d   Robinson, Christopher A ^c,d   Papapetropoulos, Spiridon ^e   Mash, Deborah C ^e   Farrer, Matthew J ^a  

^a Morris K Udall Parkinson's Disease Research Center of Excellence   (United States)

^b MAYO CLINIC   (United States)

^c SASKATOON HEALTH REGION   (Canada)

^d ROYAL UNIVERSITY HOSPITAL   (Canada)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Synuclein; Genomic multiplication; Multiple system atrophy; Quantitative PCR

Indexed keywords

ALPHA SYNUCLEIN;

ARTICLE; AUTONOMIC DYSFUNCTION; CONTROLLED STUDY; GENOMICS; HUMAN; HUMAN TISSUE; PARKINSONISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SHY DRAGER SYNDROME;

ALPHA-SYNUCLEIN; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HUMANS; MALE; MULTIPLE SYSTEM ATROPHY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 34547657291     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2006.12.005     Document Type: Article

References (22)

1. Singleton A.B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J., et al. Alpha-synuclein locus triplication causes Parkinson's disease. Science 302 (2003) 841
2. Farrer M., Kachergus J., Forno L., Lincoln S., Wang D.S., Hulihan M., et al. Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 55 (2004) 174-179
3. Papp M.I., Kahn J.E., and Lantos P.L. Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome). J Neurol Sci 94 (1989) 79-100
4. Spillantini M.G., Schmidt M.L., Lee V.M., Trojanowski J.Q., Jakes R., and Goedert M. Alpha-synuclein in Lewy bodies. Nature 388 (1997) 839-840
5. Wakabayashi K., and Takahashi H. Cellular pathology in multiple system atrophy. Neuropathology 26 (2006) 338-345
6. Armstrong R.A., Cairns N.J., and Lantos P.L. Multiple system atrophy (MSA): topographic distribution of the α-synuclein-associated pathological changes. Parkinsonism Relat Disord 12 (2002) 356-362
7. Wenning G.K., Colosimo C., Geser F., and Poewe W. Multiple system atrophy. Lancet Neurol 3 (2004) 93-103
8. Wenning G.K., and Jellinger K.A. The role of alpha-synuclein in the pathogenesis of multiple system atrophy. Acta Neuropathol (Berl) 109 (2005) 129-140
9. Lee P.H., Lee G., Park H.J., Bang O.Y., Joo I.S., and Huh K. The plasma alpha-synuclein levels in patients with Parkinson's disease and multiple system atrophy 113 (2006) 1435-1439
10. Ozawa T., Okuizumi K., Ikeuchi T., Wakabayashi K., Takahashi H., and Tsuji S. Analysis of the expression level of α-synuclein mRNA using postmortem brain samples from pathologically confirmed cases of multiple system atrophy. Acta Neuropathol (Berl) 102 (2001) 188-190
11. Vogt I.R., Lees A.J., Evert B.O., Klockgether T., Bonin M., and Wullner U. Transcriptional changes in multiple system atrophy and Parkinson's disease putamen. Exp Neurol 199 (2006) 465-478
12. Shults C.W., Barrett J.M., and Fontaine D. α-Synuclein from platelets is not phosphorylated at serine 129 in Parkinson's disease and multiple system atrophy. Neurosci Lett 405 (2006) 223-225
13. Lantos P.L. The definition of multiple system atrophy: a review of recent developments. J Neuropathol Exp Neurol 57 (1998) 1011-1099
14. Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schule B, et al. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication neurology, in press.
15. Ozawa T., Takano H., Onodera O., Kobayashi H., Ikeuchi T., Koide R., et al. No mutation in the entire coding region of the alpha-synuclein gene in pathologically confirmed cases of multiple system atrophy. Neurosci Lett 270 (1999) 110-112
16. Ozawa T., Healy D.G., Abou-Sleiman P.M., Ahmadi K.R., Quinn N., Lees A.J., et al. The alpha-synuclein gene in multiple system atrophy. J Neurol Neurosurg Psychiatry 77 (2006) 464-467
17. Healy D.G., Abou-Sleiman P.M., Quinn N., Ahmadi K.R., Ozawa T., Kamm C., et al. UCHL-1 gene in multiple system atrophy: a haplotype tagging approach. Movement Disord 20 (2005) 1338-1343
18. Bandmann O., Sweeney M.G., Daniel S.E., Wenning G.K., Quinn N., Marsden C.D., et al. Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration. Neurology 49 (1997) 1598-1604
19. Iwahashi K., Miyatake R., Tsuneoka Y., Matsuo Y., Ichikawa Y., Hosokawa K., et al. A novel cytochrome P-450IID6 (CYPIID6) mutant gene associated with multiple system atrophy. J Neurol Neurosurg Psychiatry 58 (1995) 263-264
20. Bandmann O., Wenning G.K., Quinn N.P., and Harding A.E. Arg296 to Cys296 polymorphism in exon 6 of cytochrome P-450-2D6 (CYP2D6) is not associated with multiple system atrophy. J Neurol Neurosurg Psychiatry 59 (1995) 557
21. Morris H.R., Vaughan J.R., Datta S.R., Bandopadhyay R., Rohan De Silva H.A., Schrag A., et al. Multiple system atrophy/progressive supranuclear palsy: alpha-synuclein, synphilin, tau, and APOE. Neurology 55 (2000) 1918-1920
22. Farrer M.J. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet 7 (2006) 306-318