X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome

Movement Disorders

Volumn 28, Issue 5, 2013, Pages 675-678

  Westenberger, Ana ^a   Rosales, Raymond L ^b   Heinitz, Sascha ^a   Freimann, Karen ^a   Lee, Lilian V ^c   Jamora, Roland D ^d,e   Ng, Arlene R ^e   Domingo, Aloysius ^d   Lohmann, Katja ^a   Walter, Uwe ^f   Gölnitz, Uta ^g   Rolfs, Arndt ^g,h   Nagel, Inga ⁱ   Gillessen Kaesbach, Gabriele ^a   Siebert, Reiner ^i,j   Dressler, Dirk ^f,k   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF SANTO TOMAS   (Philippines)

^c Philippine Children's Medical Center   (Philippines)

^d UNIVERSITY OF THE PHILIPPINES MANILA   (Philippines)

^e ST LUKE S MEDICAL CENTER   (Philippines)

^f UNIVERSITY OF ROSTOCK   (Germany)

^g CENTOGENE AG   (Germany)

^h Medical Faculty   (Germany)

ⁱ UNIVERSITY OF KIEL   (Germany)

^j UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^k HANNOVER MEDICAL SCHOOL   (Germany)

more..

Author keywords

DYT3; Gene and chromosome copy number analysis; Genotype phenotype correlation; Turner syndrome; X linked dystonia parkinsonism; XDP

Indexed keywords

ADULT; ALLELE; ARTICLE; ASPIRATION PNEUMONIA; BRADYKINESIA; CASE REPORT; CHROMOSOME LOSS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DYSTONIA; ELECTROPHORESIS; FATALITY; FEMALE; GENE DOSAGE; HUMAN; MONOSOMY; MUSCLE RIGIDITY; PARKINSONISM; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SPEECH DISORDER; TURNER SYNDROME; X CHROMOSOME; X LINKED DYSTONIA PARKINSONISM;

CHROMOSOMES, HUMAN, X; DYSTONIC DISORDERS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC TESTING; HISTONE ACETYLTRANSFERASES; HUMANS; MIDDLE AGED; TATA-BINDING PROTEIN ASSOCIATED FACTORS; TRANSCRIPTION FACTOR TFIID; TURNER SYNDROME;

EID: 84877922177     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25369     Document Type: Article

References (8)

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. 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.
3. 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.
4. Waters CH, Takahashi H, Wilhelmsen KC, et al. Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. Neurology. 1993;43:1555-1558.
5. Evidente VG, Nolte D, Niemann S, et al. Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women. Arch Neurol. 2004;61):1956-1959.
6. Pasco PM, Ison CV, Munoz EL, et al. Understanding XDP through imaging, pathology, and genetics. Int J Neurosci. 2011;121(Suppl 1):12-17.
7. Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004;351:1227-1238.
8. Koeberl DD, McGillivray B, Sybert VP. Prenatal diagnosis of 45, X/46, XX mosaicism and 45, X: implications for postnatal outcome. Am J Hum Genet. 1995;57:661-666.