Clinical genetics of Parkinson's disease and related disorders

Parkinsonism and Related Disorders

Volumn 13, Issue SUPPL. 3, 2007, Pages

  Wider, Christian ^a   Wszolek, Zbigniew K ^a  

^a MAYO CLINIC   (United States)

Author keywords

Genetics; Parkinson's disease; Parkinsonism

Indexed keywords

ALPHA SYNUCLEIN; DJ 1 PROTEIN; LEUCINE RICH REPEAT KINASE 2; PARKIN; PROGRANULIN; PROTEIN DERIVATIVE; PTEN INDUCED PUTATIVE KINASE 1; TAU PROTEIN; UBIQUITIN CARBOXYL TERMINAL HYDROLASE L1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL GENETICS; DEMENTIA; GENE MUTATION; HUMAN; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL;

ALPHA-SYNUCLEIN; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; ONCOGENE PROTEINS; PARKINSON DISEASE; PARKINSONIAN DISORDERS; PROTEIN-SERINE-THREONINE KINASES; TAU PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 38949193892     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1353-8020(08)70007-5     Document Type: Article

References (15)

1. Farrer M. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet 7 (2006) 306-318
2. Funayama M., Hasegawa K., Kowa H., Saito M., Tsuji S., and Obata F. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol 51 (2002) 296-301
3. Kachergus J., Mata I., Hulihan M., Taylor J., Lincoln S., Aasly J., et al. Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet 76 (2005) 672-680
4. Farrer M., Stone J., Lin C., Dachsel J., Hulihan M., Haugarvoll K., et al. Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia. Parkinsonism Relat Disord 13 (2007) 89-92
5. Wszolek Z., Vieregge P., Uitti R., Gasser T., Yasuhara O., McGeer P., et al. German-Canadian family (family A) with parkinsonism, amyotrophy, and dementia - longitudinal observations. Parkinsonism Relat Disord 3 (1997) 125-139
6. Wszolek Z., Pfeiffer R., Tsuboi Y., Uitti R., McComb R., Stoessl J., et al. Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 62 (2004) 1619-1622
7. Mueller J., Fuchs J., Hofer A., Zimprich A., Lichtner P., Illig T., et al. Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol 57 (2005) 535-541
8. Ramirez A., Heimbach A., Grundemann J., Stiller B., Hampshire D., Cid L., et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 38 (2006) 1184-1191
9. Lucking C., Durr A., Bonifati V., Vaughan J., De Michele G., Gasser T., et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 342 (2000) 1560-1567
10. Abou-Sleiman P., Healy D., Quinn N., Lees A., and Wood N. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol 54 (2003) 283-286
11. Strauss K., Martins L., Plun-Favreau H., Marx F., Kautzmann S., Berg D., et al. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet 14 (2005) 2099-2111
12. Hutton M., Lendon C., Rizzu P., Baker M., Froelich S., Houlden H., et al. Association of missense and 5 -splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393 (1998) 702-705
13. Wszolek Z., Pfeiffer R., Bhatt M., Schelper R., Cordes M., Snow B., et al. Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol 32 (1992) 312-320
14. Baker M., Mackenzie I., Pickering-Brown S., Gass J., Rademakers R., Lindholm C., et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442 (2006) 916-919
15. Masellis M., Momeni P., Meschino W., Heffner R., Elder J., Sato C., et al. Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain 129 (2006) 3115-3123