The phenotypic spectrum of DYT24 due to ANO3 mutations.
Bottom Line: Electrophysiology in two patients with two different mutations showed co-contraction of antagonist muscles, confirming dystonia, and a 6-Hz arm tremor at rest, which increased in amplitude during action.In summary, ANO3 causes a varied phenotype of young-onset or adult-onset craniocervical dystonia with tremor and/or myoclonic jerks.Patients with familial cervical dystonia who also have myoclonus-dystonia as well as patients with prominent tremor and mild dystonia should be tested for ANO3 mutations.
Affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom; Neurology Clinic, Attiko Hospital, University of Athens, Greece.Show MeSH
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Mentions: In total, 384 patients with sporadic (n = 247) and familial (n = 137) craniocervical dystonia were screened for mutations in exon 15 of the ANO3 gene.1 Of these, 112 patients (approximately 29%) had tremulous dystonia, and approximately 71% had nontremulous dystonia. One hundred seventy-five of 384 patients (45.5%) had adult-onset dystonia (at age >25 years), and 54.5% had young-onset dystonia. Forty of 384 patients had generalized dystonia. One hundred ninety of 384 patients were screened for mutations in all 27 exons of ANO3. Three families (10 individuals) were identified that harbored novel, putatively pathogenic mutations in ANO3. The description of these patients is provided below (see Results) and the family pedigrees are given in Fig. 1A,1B and 1C.
Affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom; Neurology Clinic, Attiko Hospital, University of Athens, Greece.