A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity

Movement Disorders

Volumn 25, Issue 10, 2010, Pages 1409-1417

  Poorkaj, Parvoneh ^a,b   Raskind, Wendy H ^a,b,c   Leverenz, James B ^a,b,c   Matsushita, Mark ^b   Zabetian, Cyrus P ^b,c   Samii, Ali ^b,c   Kim, Sophia ^a   Gazi, Nayiry ^a   Nutt, John G ^d   Wolff, John ^b   Yearout, Dora ^b,c   Greenup, J Lynne ^a   Steinbart, Ellen J ^b   Bird, Thomas D ^b,c  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Genetic linkage; Parkinson's disease Parkinsonism; Tauopathy; X linked Parkinsonism; X linked spastic paraparesis

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOPSY; CASE REPORT; GENOTYPE; HAPLOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; MALE; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; PARKINSONISM; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SPASTICITY; TAUOPATHY; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; AGED, 80 AND OVER; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PARKINSON DISEASE; TAUOPATHIES;

EID: 77954995632     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23085     Document Type: Article

References (35)

1. Yang YX, Wood NW, Latchman DS. Molecular basis of Parkinson's disease. Neuroreport 2009;20:150-156.
2. Gasser T, Muller-Myhsok B, Wszolek ZK, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 1998;18:262-265. (Pubitemid 28117265)
3. Li YJ, Scott WK, Hedges DJ, et al. Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet 2002;70:985-993.
4. Pankratz N, Nichols WC, Uniacke SK, et al. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum Mol Genet 2003;12:2599-2608. (Pubitemid 37304683)
5. Xu PY, Liang R, Jankovic J, et al. Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease. Neurology 2002;58:881-884. (Pubitemid 34242062)
6. Martin ER, Scott WK, Nance MA, et al. Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA 2001;286:2245-2250.
7. Hattori N, Yoshino H, Tanaka M, Suzuki H, Mizuno Y. Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease. Genomics 1998;49:52-58.
8. Buervenich S, Carmine A, Galter D, et al. A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol 2005;62:74-78.
9. Juyal RC, Das M, Punia S, et al. Genetic susceptibility to Parkinson's disease among South and North Indians. I. Role of polymorphisms in dopamine receptor and transporter genes and association of DRD4 120-bp duplication marker. Neurogenetics 2006;7:223-229.
10. Zabetian CP, Anderson GM, Buxbaum SG, et al. A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus. Am J Hum Genet 2001;68:515-522.
11. Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001;57:127-130.
12. Kupke KG, Graeber MB, Muller U. Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1. Am J Hum Genet 1992;50:808-815.
13. Hagerman RJ, Hagerman PJ. Fragile X syndrome: a model of gene-brain-behavior relationships. Mol Genet Metab 2001;74:89-97.
14. Raskind WH, Conrad EU, Chansky H, Matsushita M. Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 1995;56:1132-1139.
15. Shojaee S, Sina F, Banihosseini SS, et al. Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. Am J Hum Genet 2008;82:1375-1384.
16. Ott J. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 1989;86:4175-4178.
17. Weeks DE, Ott J, Lathrop GM. SLINK: a general simulation program for linkage analysis. Hum J Med Genet 1990;47:A204.
18. Schaffer AA, Gupta SK, Shriram K, Cottingham RW, Jr. Avoiding recomputation in linkage analysis. Hum Hered 1994;44:225-237.
19. Strauch K, Fimmers R, Kurz T, Deichmann KA, Wienker TF, Baur MP. Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization. Am J Hum Genet 2000;66:1945-1957.
20. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 1998;63:861-869.
21. Poorkaj P, Nutt JG, James D, et al. parkin mutation analysis in clinic patients with early-onset Parkinson's disease. Am J Med Genet A 2004;129:44-50.
22. Zabetian CP, Yamamoto M, Lopez AN, et al. LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease. Mov Disord 2009;24:1034-1041.
23. Nolte D, Niemann S, Muller U. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Proc Natl Acad Sci USA 2003;100:10347-10352.
24. Braak H, Braak E. Neuropathological staging of Alzheimer-related changes. Acta Neuropathol 1991;82:239-259.
25. Consensus recommendations for the postmortem diagnosis of Alzheimer's disease. The National Institute on Aging, and Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer's Disease. Neurobiol Aging 1997;18(4 Suppl):S1-S2.
26. Markopoulou K, Dickson DW, McComb RD, et al. Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson's disease: variability in familial Parkinson's disease. Acta Neuropathol 2008;116:25-35.
27. Makino S, Kaji R, Ando S, et al. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet 2007;80:393-406.
28. Pankratz N, Nichols WC, Uniacke SK, et al. Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am J Hum Genet 2002;71:124-135.
29. Dickson DW, Bergeron C, Chin SS, et al. Office of rare diseases neuropathologic criteria for corticobasal degeneration. J Neuropathol Exp Neurol 2002;61:935-946.
30. Houlden H, Baker M, Morris HR, et al. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 2001;56:1702-1706.
31. Ramirez A, Heimbach A, Grundemann J, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 2006;38:1184-1191.
32. Di Fonzo A, Dekker MC, Montagna P, et al. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 2009;72:240-245.
33. Davison C. Pallido-pyramidal disease. J Neuropathol Exp Neurol 1954;13:50-59.
34. Mellick GD, Buchanan DD, McCann SJ, et al. Variations in the monoamine oxidase B (MAOB) gene are associated with Parkinson's disease. Mov Disord 1999;14:219-224.
35. Hebert SS, De Strooper B. Molecular biology. miRNAs in neurodegeneration. Science 2007;317:1179-1180.