ArticleJournal of neurology, neurosurgery, and psychiatry1996
Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.
Article in Journal of neurology, neurosurgery, and psychiatry, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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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.
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Who cites it
3 citing papers in PubMed, 14 citations in OpenAlex.
- A critical window of CAG repeat-length correlates with phenotype severity in the R6/2 mouse model of Huntington's disease.Journal of neurophysiology · 2012Article
- Evidence from biomarkers and surrogate endpoints.NeuroRx : the journal of the American Society for Experimental NeuroTherapeutics · 2004Review
- Family history and DNA analysis in patients with suspected Huntington's disease.Journal of neurology, neurosurgery, and psychiatry · 2000Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huntington's disease is a neuropsychiatric disorder with late age of onset, caused by an elongation of a (CAG)n repeat in the IT15 gene. This trinucleotide repeat has been studied by polymerase chain reaction amplification in 86 members of 43 Spanish families with Huntington's disease and in 60 unrelated subjects from the general population. The number of (CAG)n repeats in Huntington's disease chromosomes varied from 40 to 85, with 49 and 52 repeats being the most common, whereas in normal chromosomes it ranged from 12 to 32 with 20 (CAG)n repeats being the most frequent allele. In four patients with juvenile onset the number of (CAG)n repeats was greater than 50 and only one was of maternal transmission. There was a clear inverse correlation between the number of repeats and the age of onset of the disease. The study contributed to the diagnosis of 10 patients in whom the clinical diagnosis was uncertain, and identified 41 "at risk" patients after a previous psychological-psychiatric evaluation.
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Registered trials
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