Lrrk2 R1441 substitution and progressive supranuclear palsy

Neuropathology and Applied Neurobiology

Volumn 32, Issue 1, 2006, Pages 23-25

  Ross, O A ^a,b   Whittle, A J ^a   Cobb, S A ^a   Hulihan, M M ^a   Lincoln, S J ^a   Toft, M ^a   Farrer, M J ^a   Dickson, D W ^a  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

Author keywords

Lrrk2; Neurodegeneration; PSP

Indexed keywords

LEUCINE RICH REPEAT KINASE 2; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG; LRRK2 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CODON; CONTROLLED STUDY; DISEASE PREDISPOSITION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; BRAIN; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY;

AGED; AGED, 80 AND OVER; BRAIN; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIDDLE AGED; MUTATION; PROTEIN-SERINE-THREONINE KINASES; SUPRANUCLEAR PALSY, PROGRESSIVE;

EID: 33644896009     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/j.1365-2990.2006.00693.x     Document Type: Article

References (20)

1. Kachergus J Mata IF Hulihan M Taylor JP Lincoln S Aasly J Gibson JM Ross OA Lynch T Wiley J Payami H Nutt J Maraganore DM Czyzewski K Styczynska M Wszolek ZK Farrer MJ Toft M Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism; evidence for a common founder across European populations Am J Hum Genet 2005 75 672 80
2. Zimprich A Biskup S Leitner P Lichtner P Farrer M Lincoln S Kachergus J Hulihan M Uitti RJ Calne DB Stoessl AJ Pfeiffer RF Patenge N Carbajal IC Vieregge P Asmus F Muller-Myhsok B Dickson DW Meitinger T Strom TM Wszolek ZK Gasser T Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology Neuron 2004 44 601 7
3. Paisan-Ruiz C Jain S Evans EW Gilks WP Simon J van der Brug M de Munain AL Aparicio S Gil AM Khan N Johnson J Martinez JR Nicholl D Carrera IM Pena AS de Silva R Lees A Marti-Masso JF Perez-Tur J Wood NW Singleton AB Cloning of the gene containing mutations that cause PARK8-linked Parkinson's Disease Neuron 2004 44 595 600
4. DiFonzo A Rohe CF Ferreira J Chien HF Vacca L Stocchi F Guedes L Fabrizio E Manfredi M Vanacore N Goldwurm S Breedveld G Sampaio C Meco G Barbosa E Oostra BA Bonifati V Network atIPG A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease Lancet 2005 365 412 15
5. Gilks WP Abou-Sleiman PM Gandhi S Jain S Singleton A Lees AJ Shaw K Bhatia KP Bonifati V Quinn NP Lynch J Healy DG Holton JL Revesz T Wood NW A common LRRK2 mutation in idiopathic Parkinson's disease Lancet 2005 365 415 16
6. Nichols WC Pankratz N Hernandez D Paisan-Ruiz C Jain S Halter CA Michaels VE Reed T Rudolph A Shults CW Singleton A Foroud T Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease Lancet 2005 365 410 12
7. Wszolek ZK Pfeiffer RF Tsuboi Y Uitti RJ McComb RD Stoessl AJ Strongosky AJ Zimprich A Muller-Myhsok B Farrer MJ Gasser T Calne DB Dickson DW Autosomal dominant parkinsonism associated with variable synuclein and tau pathology Neurology 2004 62 1619 22
8. Steele JC Richardson JC Olszewski J Progressive Supranuclear Palsy. A heterogeneous degeneration involving the brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia Arch Neurol 1964 10 333 59
9. Litvan I Update on progressive supranuclear palsy Curr Neurol Neurosci Rep 2004 4 296 302
10. Litvan I Agid Y Jankovic J Goetz C Brandel JP Lai EC Wenning G D'Olhaberriague L Verny M Chaudhuri KR McKee A Jellinger K Bartko JJ Mangone CA Pearce RK Accuracy of clinical criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) Neurology 1996 46 922 30
11. Conrad C Andreadis A Trojanowski JQ Dickson DW Kang D Chen X Wiederholt W Hansen L Masliah E Thal LJ Katzman R Xia Y Saitoh T Genetic evidence for the involvement of tau in progressive supranuclear palsy Ann Neurol 1997 41 277 81
12. Baker M Litvan I Houlden H Adamson J Dickson D Perez-Tur J Hardy J Lynch T Bigio E Hutton M Association of an extended haplotype in the tau gene with progressive supranuclear palsy Hum Mol Genet 1999 8 711 15
13. Pastor P Ezquerra M Perez JC Chakraverty S Norton J Racette BA McKeel D Perlmutter JS Tolosa E Goate AM Novel haplotypes in 17q21 are associated with progressive supranuclear palsy Ann Neurol 2004 56 249 58
14. Skipper L Wilkes K Toft M Baker M Lincoln S Hulihan M Ross OA Hutton M Aasly J Farrer M Linkage disequilibrium and association of MAPT H1 in Parkinson disease Am J Hum Genet 2004 75 669 77
15. Josephs KA Dickson DW Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy brain bank Mov Disord 2003 18 1018 26
16. Hauw J-J Daniel SE Dickson DW Horoupian DS Jellinger K Lantos PL McKee A Tabaton M Litvan I Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy) Neurology 1994 44 2015 19
17. Bosgraaf L Van Haastert PJ Roc, a Ras/GTPase domain in complex proteins Biochim Biophys Acta 2003 1643 5 10
18. Stenmark H Olkkonen VM The Rab GTPase family Genome Biol 2001 2 Reviews 3007.1 3007 7
19. Ali BR Wasmeier C Lamoreux L Strom M Seabra MC Multiple regions contribute to membrane targeting of Rab GTPases J Cell Sci 2004 117 6401 12
20. Tsuboi Y Josephs KA Cookson N Dickson DW APOE E4 is a determinant for Alzheimer type pathology in progressive supranuclear palsy Neurology 2003 60 240 5