ArticleAmerican journal of human genetics1997
Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Tremor in Pediatric Populations: Clinical Characteristics, Differential Diagnosis, and Management Challenges.Movement disorders clinical practice · 2025Review
- Tremor Syndromes: An Updated Review.Frontiers in neurology · 2021Review
- Hereditary geniospasm in a mother and son treated with botulinum toxin injection: A case report.SAGE open medical case reports · 2021Article
- Effective Treatment of Geniospasm: Case Series and Review of the Literature.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
- Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- Abnormalities of Masseteric Inhibitory Reflex in Hereditary Geniospasm: Evidence for a Brainstem Myoclonus.Movement disorders clinical practice · 2015Article
- Tongue biting: a case of sporadic geniospasm during sleep.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2014Article
- Chin tremor in full-term neonate after hypoxia.Sao Paulo medical journal = Revista paulista de medicina · 2012Article
- Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.American journal of human genetics · 1999Article
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Authors and funding
7 authors.
Funding
Abstract
Hereditary geniospasm is an unusual movement disorder causing episodes of involuntary tremor of the chin and the lower lip. Episodes typically start in early childhood and may be precipitated by stress, concentration, and emotion. Hereditary geniospasm is inherited as an autosomal dominant trait, and its cause is not known. We report the results of a genomewide genetic linkage study in a four-generation British family with hereditary geniospasm. Positive two-point LOD scores were obtained for 15 microsatellite markers on the peri-centromeric region of chromosome 9. A maximum two-point LOD score of 5.24 at theta = .00 was obtained for the marker D9S1837. Construction of haplotypes defined an interval of 2.1 cM between the flanking markers D9S1806 and D9S175, thus assigning one locus for hereditary geniospasm to the proximal long arm of chromosome 9q13-q21. Hereditary geniospasm in a second British family is not linked to this region, indicating genetic heterogeneity. These findings may have implications for other inherited focal movement disorders that as yet remain unmapped.
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