+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia

, : A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia. Human Mutation 14(3): 269-269

Hereditary torsion dystonia represent a clinically and genetically heterogeneous group of movement disorders. The most severe and frequent form of hereditary torsion dystonia is early-onset generalized dystonia, DYT1. The DYT1 gene (Ozelius et al., 1997) encodes an ATP-binding protein torsin A. A unique 3-bp deletion (GAG) was found in the heterozygous state in almost all patients with early-onset dystonia from different populations. We observed 39 patients with early-onset generalized torsion dystonia belonging to 22 families from Russia. Seven families were of Ashkenazi Jewish (AJ) ethnic background, and other patients originated from the Slavonic population of Russia. The GAG deletion was identified in 24 affected persons from 15 families (68.2% of the families studied). In all the 7 families of AJ origin the disease was found to be caused by the deletion. In Slavs, the deletion was identified in 8 of 15 families (53%). In two deletion-positive families we observed the co-occurrence of typical early-onset generalized dystonia and atypical phenotypes-either isolated postural hand tremor or stutter.


PMID: 10477437

DOI: 10.1002/(SICI)1098-1004(1999)14:3<269::AID-HUMU12>3.0.CO;2-9

Other references

Moore, Euan., 1996: Nesting variation at Terrick Terrick. Bird Observer (Nunawading). May; 763: 17

Fedotov V.P.; Godoshnikov V.I.; Baranova I.N., 1991: Direct stimulatory influence of thyrotropin releasing hormone trh on total protein biosynthesis in cultured fetal rat liver cells. In experiments using fetal rat liver cultured cells TRH was shown to stimulate total protein synthesis but not RNA synthesis during long incubation. Somatostatin affected neither protein synthesis nor RNA synthesis in cultured liver cells. Possibl...

Szállási, A., 1986: The first bacteriological atlas. Orvosi Hetilap 127(14): 837-839

Kline P.; Trejdosiewicz L., 1971: Impulse ego superego test scores of students in great britain. Perceptual & Motor Skills 33(3 PART 2): 1209-1210

Salmeron B.; Mcdonald M.B.; Beuerman R.W.; Pedroza L.; Kaufman H.E., 1987: Feasibility of intracorneal implantation of polysulfone inlays in rhesus monkeys. Investigative Ophthalmology & Visual Science 28(3 SUPPL): 226

Braun, S.; auf dem Keller, U.; Beer, H-Dietmar.; Krampert, M.; Müller, M.; Werner, S.; Dickson, C.; Werner, S., 2002: Meeting report: growth factors in development, repair and disease. European Journal of Cell Biology 81(7): 375-382

Abeln, S.; Frenkel, D., 2009: Disordered flanks prevent peptide aggregation. Natively unstructured or disordered regions appear to be abundant in eukaryotic proteins. Many such regions have been found alongside small linear binding motifs. We report a Monte Carlo study that aims to elucidate the role of disordered regions...

Crissey, W.L., 1946: Rhododendron occidentale. Notes on occurrence, variations and horticultural merits of the Western Azalae as grown on the U. S. Pacific Coast.

Kilroy, D.A.; Mooney, J.S., 2007: Determination of required pharmacological knowledge for clinical practice in emergency medicine using a modified Delphi technique. To identify the content of the national postgraduate pharmacology curriculum for trainees in UK emergency medicine. Modified three-round iterated Delphi technique employing a participant panel of 160 randomly selected consultants in emergency medi...

Bensaleh, H.; Benzekri, L.; Afifi, Y.; Berbiche, L.; Senouci, K.; Hassam, B., 2005: Leg ulcer in childhood and adolescent: 31 cases. Annales de Dermatologie et de Venereologie 132(8-9 Pt 1): 702-703