ArticleAmerican journal of human genetics1996
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 123 citations in OpenAlex.
- Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Neuroscience and biobehavioral reviews · 2017Review
- The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Movement disorders : official journal of the Movement Disorder Society · 2017Review
- Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.The Journal of clinical investigation · 2012Article
- Genetics of paroxysmal dyskinesias.Current neurology and neuroscience reports · 2009Review
- Diagnosis and treatment of paroxysmal dyskinesias revisited.Therapeutic advances in neurological disorders · 2008Article
- Diagnosis and management of acute movement disorders.Journal of neurology · 2005Review
- Review
- Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.American journal of human genetics · 1999Article
- A novel syndrome of episodic muscle weakness maps to xp22.3.American journal of human genetics · 1999Article
- The dystonias.Journal of medical genetics · 1998Review
- Mapping of the human Ca2+ channel beta 4 subunit to 2q22-23 and its expression in developing mouse.Mammalian genome : official journal of the International Mammalian Genome Society · 1998Article
- Nab1, a corepressor of NGFI-A (Egr-1), contains an active transcriptional repression domain.Molecular and cellular biology · 1998Article
- Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity.American journal of human genetics · 1997Article
- Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.American journal of human genetics · 1997Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred with autosomal dominant PDC and identified tight linkage between the disorder and microsatellite markers on chromosome 2q (maximum two-point LOD score 4.77; recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant PDC on distal chromosome 2q. The fact that three other paroxysmal neurological disorders (periodic ataxia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel genes raises the possibility that PDC is also due to an ion-channel gene mutation. It is noteworthy that a cluster of sodium-channel genes is located on distal chromosome 2q, near the PDC locus. Identifying the PDC locus on chromosome 2q will facilitate discovery of the PDC gene and enable investigators to determine whether PDC is genetically homogeneous and whether other paroxysmal movement disorders are also genetically linked to the PDC locus.
Indexed as
Identifiers
8659518PMC1915128W1567957697What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.