Disabling Head Tremor in a Patient with DYT1 Mutation
- PMID: 24868365
- PMCID: PMC4027725
- DOI: 10.14802/jmd.09023
Disabling Head Tremor in a Patient with DYT1 Mutation
Abstract
Dystonic head tremor is known to be a feature in some patients with DYT1 mutation. However, isolated tremor of the head without relevant cervical dystonia has rarely been described. We report here a patient with the three-bp GAG deletion in the DYT1 gene (904_906delGAG) who had severe head tremor in the frame of a generalized limb dystonia.
Keywords: DYT 1 gene; Dystonia; Tremor.
References
-
- Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997;17:40–48. - PubMed
-
- Németh AH. The genetics of primary dystonias and related disorders. Brain. 2002;125:695–721. - PubMed
-
- Valente EM, Warner TT, Jarman PR, Mathen D, Fletcher NA, Marsden CD, et al. The role of DYT1 in primary torsion dystonia in Europe. Brain. 1998;121:2335–2339. - PubMed
-
- Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology. 2004;62:395–400. - PubMed
-
- Edwards M, Wood N, Bhatia K. Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov Disord. 2003;18:706–711. - PubMed
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