ArticleAmerican journal of human genetics2001
Huntington disease phenocopy is a familial prion disease.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 154 citations in OpenAlex.
- American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Guideline
- Update on Genetic Chorea.European journal of neurology · 2025Review
- 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
- Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review.Medicina (Kaunas, Lithuania) · 2022Review
- The role of structural variations in Alzheimer's disease and other neurodegenerative diseases.Frontiers in aging neuroscience · 2022Review
- Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.Frontiers in neurology · 2022Article
- Emergence of directional bias in tau deposition from axonal transport dynamics.PLoS computational biology · 2021Article
- The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.Nature reviews. Neurology · 2021Review
- An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.Acta neuropathologica communications · 2021Review
- Novel Imaging Biomarkers for Huntington's Disease and Other Hereditary Choreas.Current neurology and neuroscience reports · 2018Review
- Recent Insights on Alzheimer's Disease Originating from Yeast Models.International journal of molecular sciences · 2018Review
- Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?Current neurology and neuroscience reports · 2018Review
- Genetic PrP Prion Diseases.Cold Spring Harbor perspectives in biology · 2018Review
- Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.Annals of clinical and translational neurology · 2018Article
- Hereditary Human Prion Diseases: an Update.Molecular neurobiology · 2017Review
- Recent advances in genetics of chorea.Current opinion in neurology · 2016Review
- Quantifying prion disease penetrance using large population control cohorts.Science translational medicine · 2016Article
- PERK-opathies: An Endoplasmic Reticulum Stress Mechanism Underlying Neurodegeneration.Current Alzheimer research · 2016Review
- Network analysis of human post-mortem microarrays reveals novel genes, microRNAs, and mechanistic scenarios of potential importance in fighting huntington's disease.Computational and structural biotechnology journal · 2016Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huntington disease (HD) is a common autosomal dominant neurodegenerative disease with early adult-onset motor abnormalities and dementia. Many studies of HD show that huntingtin (CAG)n repeat-expansion length is a sensitive and specific marker for HD. However, there are a significant number of examples of HD in the absence of a huntingtin (CAG)n expansion, suggesting that mutations in other genes can provoke HD-like disorders. The identification of genes responsible for these "phenocopies" may greatly improve the reliability of genetic screens for HD and may provide further insight into neurodegenerative disease. We have examined an HD phenocopy pedigree with linkage to chromosome 20p12 for mutations in the prion protein (PrP) gene (PRNP). This reveals that affected individuals are heterozygous for a 192-nucleotide (nt) insertion within the PrP coding region, which encodes an expanded PrP with eight extra octapeptide repeats. This reveals that this HD phenocopy is, in fact, a familial prion disease and that PrP repeat-expansion mutations can provoke an HD "genocopy." PrP repeat expansions are well characterized and provoke early-onset, slowly progressive atypical prion diseases with an autosomal dominant pattern of inheritance and a remarkable range of clinical features, many of which overlap with those of HD. This observation raises the possibility that an unknown number of HD phenocopies are, in fact, familial prion diseases and argues that clinicians should consider screening for PrP mutations in individuals with HD-like diseases in which the characteristic HD (CAG)n repeat expansions are absent.
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