ArticleMovement disorders clinical practice2019
Spectrum of Movement Disorders in 18p Deletion Syndrome.
Article in Movement disorders clinical practice, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Long-term efficiency of pallidal DBS and the role of Levodopa treatment in DYT-GNAL and 18p deletion syndrome associated dystonia: an observational study and review of literature.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Tremor in Pediatric Populations: Clinical Characteristics, Differential Diagnosis, and Management Challenges.Movement disorders clinical practice · 2025Review
- Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia.Diagnostics (Basel, Switzerland) · 2025Article
- A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report.International journal of molecular sciences · 2025Article
- Tremulous Dystonia Due to GNAL Haploinsufficiency Caused by 18p Deletion Syndrome.Journal of movement disorders · 2024Article
- Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case.BMC women's health · 2024Article
- A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism.Journal of movement disorders · 2024Article
- Differential diagnosis of chorea (guidelines of the German Neurological Society).Neurological research and practice · 2023Article
- Late Diagnosis of 18p Syndrome with Movement Disorders by Whole Exome Sequencing Read-Depth Based Algorithm.Movement disorders clinical practice · 2023Article
- Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy.Global medical genetics · 2022Article
- The Spectrum of Movement Disorders in 18-p Deletion Syndrome.Movement disorders clinical practice · 2019Article
- Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome.Movement disorders clinical practice · 2019Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDeletion of the short arm of chromosome 18 leads to 18p deletion syndrome. Clinical features include short stature, facial dysmorphism, mental retardation, and several types of movement disorders.
methodsThe 18p deletion syndrome in our patient was diagnosed using karyotype analysis and confirmed by genome-wide single-nucleotide polymorphism array. We have performed a literature search and summarized all previously reported patients with 18p deletion syndrome and movement disorders.
resultsWe present a 41-year-old male patient with childhood-onset generalized dystonia. Dystonia is the most prevalent movement disorder in 18p deletion patients, with onset ranging from childhood to adulthood. Chorea, myoclonus, tremor, tics, and ataxia have been reported in a minority of these patients.
conclusionDystonia is commonly observed in 18p deletion syndrome. The variable size of the deletion on 18p is probably responsible for the broad phenotypic variability of movement disorders in this syndrome.
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