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Review
. 2011 May;42(2):127-35.
doi: 10.1016/j.nbd.2010.12.012. Epub 2010 Dec 17.

Genetic and clinical features of primary torsion dystonia

Laurie J Ozelius  1 , Susan B Bressman
Affiliations
Review

Genetic and clinical features of primary torsion dystonia

Laurie J Ozelius et al. Neurobiol Dis. 2011 May.

Abstract

Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will describe the phenotypes associated with these loci and discuss the responsible gene. This article is part of a Special Issue entitled "Advances in dystonia".

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References

    1. Ahmad F, Davis MB, Waddy HM, Oley CA, Marsden CD, Harding AE. Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics. 1993;15:9–12. - PubMed
    1. Aniello MS, Martino D, Masi G, Livrea P, Defazio G. Sensitivity and specificity of a self-administered questionnaire for familial screening of adult-onset dystonia. Mov Disord. 2006;21:571–575. - PubMed
    1. Almasy L, Bressman SB, Raymond D, Kramer PL, Greene PE, Heiman GA, Ford B, Yount J, de Leon D, Chouinard S, Saunders-Pullman R, Brin MF, Kapoor RP, Jones AC, Shen H, Fahn S, Risch NJ, Nygaard TG. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol. 1997;42:670–673. - PubMed
    1. Argyelan M, Carbon M, Niethammer M, Ulug AM, Voss HU, Bressman SB, Dhawan V, Eidelberg D. Cerebellothalamocortical connectivity regulates penetrance in dystonia. J Neurosci. 2009;29:9740–9747. - PMC - PubMed
    1. Asanuma K, Ma Y, Okulski J, Dhawan V, Chaly T, Carbon M, Bressman SB, Eidelberg D. Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology. 2005;64:347–349. - PubMed

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