ArticleAmerican journal of human genetics1994
Huntington disease without CAG expansion: phenocopies or errors in assignment?
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 105 citations in OpenAlex.
- Proceed with care: direct predictive testing for Huntington disease.American journal of human genetics · 1994Trial
- The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review.Journal of Huntington's disease · 2026Review
- CRISPR-based gene therapy for huntington's disease: current advances and future prospects.Neurogenetics · 2025Review
- Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Article
- Huntington disease-like 2: insight into neurodegeneration from an African disease.Nature reviews. Neurology · 2024Review
- Human prion diseases and the prion protein - what is the current state of knowledge?Translational neuroscience · 2023Review
- Genetic testing in dementia - utility and clinical strategies.Nature reviews. Neurology · 2021Review
- Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Article
- Article
- Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2015Article
- Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.Journal of movement disorders · 2015Review
- C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.Neurology · 2014Article
- Update on the Non-Huntington's Disease Choreas with Comments on the Current Nomenclature.Tremor and other hyperkinetic movements (New York, N.Y.) · 2012Article
- Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.Journal of human genetics · 2006Article
- Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.Journal of neurology, neurosurgery, and psychiatry · 2005Article
- Huntington disease phenocopy is a familial prion disease.American journal of human genetics · 2001Article
- Family history and DNA analysis in patients with suspected Huntington's disease.Journal of neurology, neurosurgery, and psychiatry · 2000Article
- Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.American journal of human genetics · 2000Article
- A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.American journal of human genetics · 1998Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 (IT15). A total of 30 of 1,022 affected persons (2.9% of our cohort) did not have an expanded CAG in the disease range. The reasons for not observing expansion in affected individuals are important for determining the sensitivity of using repeat length both for diagnosis of affected patients and for predictive testing programs and may have biological relevance for the understanding of the molecular mechanism underlying HD. Here we show that the majority (18) of the individuals with normal sized alleles represent misdiagnosis, sample mix-up, or clerical error. The remaining 12 patients represent possible phenocopies for HD. In at least four cases, family studies of these phenocopies excluded 4p16.3 as the region responsible for the phenotype. Mutations in the HD gene that are other than CAG expansion have not been excluded for the remaining eight cases; however, in as many as seven of these persons, retrospective review of these patients' clinical features identified characteristics not typical for HD. This study shows that on rare occasions mutations in other, as-yet-undefined genes can present with a clinical phenotype very similar to that of HD.
Indexed as
Identifiers
8178825PMC1918249W1484496882What 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.