ArticleMovement disorders : official journal of the Movement Disorder Society2014
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Article in Movement disorders : official journal of the Movement Disorder Society, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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48 citing papers in PubMed, 111 citations in OpenAlex.
- Lipid flip-flop in biological membranes: through the lens of TMEM16F.Physiological reviews · 2027Review
- Clinical and Genetic Spectrum of ANO3-Related Dystonia with Treatment Responses in a Chinese Cohort.Genes · 2026Article
- Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions.NPJ genomic medicine · 2026Article
- Tremor pathophysiology.Clinical parkinsonism & related disorders · 2026Review
- Rare Movement Disorders-An Approach for Clinicians.International journal of molecular sciences · 2025Review
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- Hereditary Truncal Dystonia Associated with ANO3 Gene Variant.Movement disorders clinical practice · 2025Article
- Exploring the early drivers of pain in Parkinson's disease.Scientific reports · 2025Article
- TMEM16 proteins: CaInternational journal of molecular medicine · 2024Review
- Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.American journal of human genetics · 2024Article
- The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.Movement disorders clinical practice · 2024Review
- The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list.Parkinsonism & related disorders · 2023Article
- The role of laboratory investigations in the classification of tremors.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- The Patho-Neurophysiological Basis and Treatment of Focal Laryngeal Dystonia: A Narrative Review and Two Case Reports Applying TMS over the Laryngeal Motor Cortex.Journal of clinical medicine · 2022Review
- Polymodal Control of TMEM16x Channels and Scramblases.International journal of molecular sciences · 2022Review
- Mixed Motor Disorder: Essential Tremor Families With Heterogeneous Motor Phenomenology.Neurology. Clinical practice · 2021Article
- Tremor in Primary Monogenic Dystonia.Current neurology and neuroscience reports · 2021Review
- Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity inMovement disorders clinical practice · 2021Article
- Exploring Interrater Disagreement on Essential Tremor Using a Standardized Tremor Elements Assessment.Movement disorders clinical practice · 2021Article
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11 authors at 5 institutions in 5 countries.
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Abstract
Genes causing primary dystonia are rare. Recently, pathogenic mutations in the anoctamin 3 gene (ANO3) have been identified to cause autosomal dominant craniocervical dystonia and have been assigned to the dystonia locus dystonia-24 (DYT24). Here, we expand on the phenotypic spectrum of DYT24 and provide demonstrative videos. Moreover, tremor recordings were performed, and back-averaged electroencephalography, sensory evoked potentials, and C-reflex studies were carried out in two individuals who carried two different mutations in ANO3. Ten patients from three families are described. The age at onset ranged from early childhood to the forties. Cervical dystonia was the most common site of onset followed by laryngeal dystonia. The characteristic feature in all affected individuals was the presence of tremor, which contrasts DYT24 from the typical DYT6 phenotype. Tremor was the sole initial manifestation in some individuals with ANO3 mutations, leading to misdiagnosis as essential tremor. 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 one of the studied patients, clinically superimposed myoclonus was observed. The duration of the myoclonus was in the range of 250 msec at about 3 Hz, which is more consistent with subcortical myoclonus. 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.
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