ArticleNeurogenetics2017
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Article in Neurogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.Molecular biology reports · 2021Pooled it
- Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.Neurogenetics · 2026Article
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- Multiscale characterization ofiScience · 2025Article
- Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.Nature communications · 2025Article
- Article
- Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder.Movement disorders clinical practice · 2025Article
- Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.Journal of movement disorders · 2024Article
- Scoping Review on ADCY5-Related Movement Disorders.Movement disorders clinical practice · 2023Article
- Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature.Frontiers in neurology · 2023Article
- A draft conceptual model of SLC6A1 neurodevelopmental disorder.Frontiers in neuroscience · 2022Article
- Dystonia-Deafness Syndrome:Movement disorders clinical practice · 2022Article
- A New PathologicTremor and other hyperkinetic movements (New York, N.Y.) · 2022Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- Exome sequencing in paediatric patients with movement disorders.Orphanet journal of rare diseases · 2021Article
- KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain : a journal of neurology · 2020Article
- Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.BMC neurology · 2020Article
- Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia.BMC medical genetics · 2020Article
- DYT28 Responsive to Pallidal Deep Brain Stimulation.Movement disorders clinical practice · 2020Article
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Combined and complex dystonias are heterogeneous movement disorders combining dystonia with other motor and/or systemic signs. Although we are beginning to understand the diverse molecular causes of these disease entities, clinical pattern recognition and conventional genetic workup achieve an etiological diagnosis only in a minority of cases. Our goal was to provide a window into the variable genetic origins and distinct clinical patterns of combined/complex dystonia more broadly. Between August 2016 and January 2017, we applied whole-exome sequencing to a cohort of nine patients with varied combined and/or complex dystonic presentations, being on a diagnostic odyssey. Bioinformatics analyses, co-segregation studies, and sequence-interpretation algorithms were employed to detect causative mutations. Comprehensive clinical review was undertaken to define the phenotypic spectra and optimal management strategies. On average, we observed a delay in diagnosis of 23 years before whole-exome analysis enabled determination of each patient's genetic defect. Whereas mutations in ACTB, ATP1A3, ADCY5, and SGCE were associated with particular phenotypic clues, trait manifestations arising from mutations in PINK1, MRE11A, KMT2B, ATM, and SLC6A1 were different from those previously reported in association with these genes. Apart from improving counseling for our entire cohort, genetic findings had actionable consequences on preventative measures and therapeutic interventions for five patients. Our investigation confirms unique genetic diagnoses, highlights key clinical features and phenotypic expansions, and suggests whole-exome sequencing as a first-tier diagnostic for combined/complex dystonia. These results might stimulate independent teams to extend the scope of agnostic genetic screening to this particular phenotypic group that remains poorly characterized through existing studies.
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