Substantia nigra hyperechogenicity in DYT6 dystonia: A pilot study

Parkinsonism and Related Disorders

Volumn 16, Issue 6, 2010, Pages 420-422

  Saunders Pullman, Rachel ^a   Stanley, Kaili ^b   Brüggemann, Norbert ^a   Raymond, Deborah ^c   San Luciano, Marta ^c   Wang, Cuiling ^a   Klein, Christine ^b   Lubarr, Naomi ^c   Ozelius, Laurie ^d   Bressman, Susan B ^a,b   Hagenah, Johann ^c  

^a BETH ISRAEL MEDICAL CENTER   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF LÜBECK   (Germany)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

DYT6 dystonia; Hyperechogenicity; Substantia nigra; Transcranial sonography; Ultrasonography

Indexed keywords

ADOLESCENT; ADULT; CLINICAL ARTICLE; CONTROLLED STUDY; DYSTONIA; DYT6 DYSTONIA; ECHOGRAPHY; FEMALE; GENE MUTATION; HUMAN; LETTER; MALE; NEUROLOGIC EXAMINATION; PILOT STUDY; PRIORITY JOURNAL; SUBSTANTIA NIGRA;

ADOLESCENT; ADULT; AGED; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; HUMANS; MALE; MIDDLE AGED; PILOT PROJECTS; SUBSTANTIA NIGRA; ULTRASONOGRAPHY, DOPPLER, TRANSCRANIAL; YOUNG ADULT;

EID: 77953650027     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2010.03.003     Document Type: Letter

References (6)

1. Fuchs T., Gavarini S., Saunders-Pullman R., Raymond D., Ehrlich M.E., Bressman S.B., et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009, 41:286-288.
2. Bressman S.B., Raymond D., Fuchs T., Heiman G.A., Ozelius L.J., Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009, 8:441-446.
3. Saunders-Pullman R., Raymond D., Senthil G., Kramer P., Ohmann E., Deligtisch A., et al. Narrowing the DYT6 region and evidence for locus heterogenity in the Amish-Mennonites. Am J Med Genet A 2007, 143A:2098-2105.
4. Hagenah J.M., Hedrich K., Becker B., Pramstaller P.P., Seidel G., Klein C. Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography. Neurology 2006, 66:1951-1952.
5. Roussigne M., Cayrol C., Clouaire T., Amalric T., Girard J.P. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. Oncogene 2003, 22:2432-2442.
6. Carbon M., Niethammer M., Peng S., Raymond D., Dhawan V., Chaly T., et al. Abnormal striatal and thalamic dopamine neurotransmission: genotype-related features of dystonia. Neurology 2009, 72:2097-3003.