Woman with X-linked recessive dystonia-parkinsonism: Clue to the epidemiology of parkinsonism in Filipino women?

JAMA Neurology

Volumn 71, Issue 9, 2014, Pages 1177-1180

  Domingo, Aloysius ^a,b   Lee, Lillian V ^b   Brüggemann, Norbert ^a   Freimann, Karen ^a   Kaiser, Frank J ^a   Jamora, Roland D G ^b,c   Rosales, Raymond L ^b,d   Klein, Christine ^a   Westenberger, Ana ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b Philippine Children's Medical Center   (Philippines)

^c UNIVERSITY OF THE PHILIPPINES MANILA   (Philippines)

^d UNIVERSITY OF SANTO TOMAS HOSPITAL   (Philippines)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; CARBIDOPA; COMPLEMENTARY DNA; GENOMIC DNA; LEVODOPA;

AGED; ALLELE; ANDROGEN RECEPTOR GENE; ARTICLE; BRADYKINESIA; BRAIN ATROPHY; CASE REPORT; DNA METHYLATION; DNA SEQUENCE; DYSTONIA; FEMALE; FILIPINO (CITIZEN); FROZEN SHOULDER; GAIT DISORDER; GENE; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HAND TREMOR; HAPLOTYPE; HETEROZYGOTE; HUMAN; INTRON; MEDICAL HISTORY; MICROSATELLITE MARKER; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSON DISEASE; PARKINSONISM; PHYSICAL EXAMINATION; RETROPOSON; TAF1 GENE; X CHROMOSOME; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER; X LINKED DYSTONIA PARKINSONISM; DYSTONIC DISORDER; GENETIC SCREENING; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PHILIPPINES; SEX DIFFERENCE;

AGED; DYSTONIC DISORDERS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC TESTING; HUMANS; PHILIPPINES; SEX FACTORS; X CHROMOSOME INACTIVATION;

EID: 84907509735     PISSN: 21686149     EISSN: 21686157     Source Type: Journal    
DOI: 10.1001/jamaneurol.2014.56     Document Type: Article

References (14)

1. Lee LV, Rivera C, Teleg RA, et al. The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag"). Int J Neurosci. 2011;121(suppl 1):3-11.
2. Westenberger A, Rosales RL, Heinitz S, et al. X-linked dystonia-parkinsonism manifesting in a female patient due to atypical turner syndrome. Mov Disord. 2013;28(5):675-678.
3. Evidente VG, Nolte D, Niemann S, et al. Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women. Arch Neurol. 2004;61(12):1956-1959.
4. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992;51 (6):1229-1239.
5. Pasco PM, Ison CV, Muňoz EL, et al. Understanding XDP through imaging, pathology, and genetics. Int J Neurosci. 2011;121(suppl 1):12-17.
6. Waters CH, Takahashi H, Wilhelmsen KC, et al. Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. Neurology. 1993;43(8):1555-1558.
7. Bittel DC, Theodoro MF, Kibiryeva N, Fischer W, Talebizadeh Z, Butler MG. Comparison of X-chromosome inactivation patterns in multiple tissues from human females. J Med Genet. 2008;45 (5):309-313.
8. Tadic V, Kasten M, Brüggemann N, Stiller S, Hagenah J, Klein C. Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. Arch Neurol. 2012;69(12):1558-1562.
9. Amos-Landgraf JM, Cottle A, Plenge RM, et al. X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet. 2006;79(3):493-499.
10. Sandovici I, Naumova AK, Leppert M, Linares Y, Sapienza C. A longitudinal study of X-inactivation ratio in human females. Hum Genet. 2004;115(5):387-392.
11. Kristiansen M, Knudsen GP, Bathum L, et al. Twin study of genetic and aging effects on X chromosome inactivation. Eur J Hum Genet. 2005;13(5):599-606.
12. Archer H, Evans J, Leonard H, et al. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J Med Genet. 2007;44(2):148-152.
13. Van Den Eeden SK, Tanner CM, Bernstein AL, et al. Incidence of Parkinson's disease. Am J Epidemiol. 2003;157(11):1015-1022.
14. Roxas A, Gose M, Dominguez J, Liban S, Rosales RL, Sosa M. The prevalence of stroke, parkinsonism, dementia,migraine and epilepsy in the Philippines, part II. Phil J Neurol. 2007;11(1):5-11.