ArticleMovement disorders : official journal of the Movement Disorder Society2014
Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
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 18 papers.
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18 citing papers in PubMed, 38 citations in OpenAlex.
- GNAL-associated dystonia: clinical spectrum, genetic features, and genotype-phenotype correlations.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review.Neurogenetics · 2026Review
- Clinical characteristics of headaches in an urban Mennonite group in South Brazil.Arquivos de neuro-psiquiatria · 2023Article
- Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.Seminars in neurology · 2023Article
- Functional abnormalities in the cerebello-thalamic pathways in a mouse model of DYT25 dystonia.eLife · 2022Article
- Genetic screening in patients of Meige syndrome and blepharospasm.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.Frontiers in neurology · 2021Review
- Regional, not global, functional connectivity contributes to isolated focal dystonia.Neurology · 2020Article
- Rest tremor in dystonia: epidemiology, differential diagnosis, and pathophysiology.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Identification of a novel genetic locus underlying tremor and dystonia.Human genomics · 2017Article
- Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.Neurobiology of disease · 2016Article
- GNAL mutation in isolated laryngeal dystonia.Movement disorders : official journal of the Movement Disorder Society · 2016Article
- Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.Journal of neurology · 2016Article
- Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?Frontiers in neurology · 2016Review
- New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).European journal of human genetics : EJHG · 2015Article
- Inherited isolated dystonia: clinical genetics and gene function.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Review
- Recent advances in the genetics of dystonia.Current neurology and neuroscience reports · 2014Review
- Teenage Onset Head Tremor Due to Novel Mutation in GNAL Gene.Movement disorders clinical practiceArticle
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9 authors at 5 institutions in 1 country.
Funding
Abstract
A founder mutation in the Thanatos-associated (THAP) domain containing, apoptosis associated protein 1 (THAP1) gene causing primary dystonia was originally described in the Amish-Mennonites. However, there may be both genotypic and phenotypic heterogeneity of dystonia in this population that may also inform studies in other ethnic groups. Genotyping for THAP1 and for guanine nucleotide binding protein (G protein), α-activating activity polypeptide, olfactory type (GNAL) mutations and genotype-phenotype comparisons were performed for 76 individuals of Amish-Mennonites heritage with primary dystonia. Twenty-seven individuals had mutations in THAP1-most with the founder indel mutation-but two had different THAP1 mutations, 8 had mutations in GNAL, and 1 had a de novo GAG deletion in torsin 1A (TOR1A) (dystonia 1 [DYT1]). In the primary analysis comparing THAP1 carriers versus all non-THAP1, non-GNAL, non-TOR1A individuals, age at onset was lower in THAP1 carriers (mean age ± standard deviation, 15.5 ± 9.2 years [range, 5-38 years] vs. 39.2 ± 17.7 years [range, 1-70 years]; P < 0.001), and THAP1 carriers were more likely to have onset of dystonia in an arm (44.4% vs. 15.0%; P = 0.02) and to have arm involvement (88.9% vs. 22.5%; P < 0.01), leg involvement (51.9% vs. 10.0%; P = 0.01), and jaw/tongue involvement (33.3% vs. 7.5%; P = 0.02) involvement at their final examination. Carriers were less likely to have dystonia restricted to a single site (11.11% in carriers vs. 65.9% in noncarriers; P < 0.01) and were less likely to have dystonia onset in cervical regions (25.9% of THAP1 carriers vs. 52.5% of noncarriers; P = 0.04). Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. Phenotype, particularly age at onset combined with final distribution, may be highly specific for the genetic etiology.
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