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Huntington's disease: a clinical review
Roos RA.. Orphanet journal of rare diseases, 2010-12-20
Topic: Risk, prevention and care in population studies
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD). The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation) are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which results in patients requiring full-time care, and finally death. The most common cause of death is pneumonia, followed by suicide.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Roos, R. A. (2010). Huntington's disease: a clinical review. Orphanet journal of rare diseases. https://doi.org/10.1186/1750-1172-5-40
Vancouver
Roos RA. Huntington's disease: a clinical review. Orphanet journal of rare diseases. 2010. doi:10.1186/1750-1172-5-40. PMID: 21171977.
BibTeX
@article{roos2010-21171977,
author = {Roos, R. A.},
title = {{Huntington's disease: a clinical review}},
journal = {Orphanet journal of rare diseases},
year = {2010},
doi = {10.1186/1750-1172-5-40},
pmid = {21171977},
url = {https://doi.org/10.1186/1750-1172-5-40}
}
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Key findings
- The progression of the disease leads to a complete dependency in daily life, which results in patients requiring full-time care, and finally death.
Why it matters
This clinical review describes Huntington's disease, a rare inherited neurodegenerative disorder that causes movement problems, psychiatric symptoms and dementia, and it is not Alzheimer's disease. It reports no treatment that cures or prevents the disease.
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Study details
- Evidence strengthLow
How this study scored 51/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Orphanet journal of rare diseases) |
| Journal's citation record | 2 / 4 | Orphanet Journal of Rare Diseases: journal h-index 179 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2010 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 7 / 7 | Cited 1,037 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 57.6 citations a year over 18 year(s) since 2010 |
| Impact for its field and year | 4 / 6 | Cited 11.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 3 other studies in this library |
| Still being cited | 4 / 4 | Cited 247 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Raymund A.C. Roos: h-index 71 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Leiden University Medical Center: institution h-index 930 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 21171977) |
| Free to read | 2 / 2 | Free to read |
| Total | 51 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1186/1750-1172-5-40
- PubMed: 21171977
- Original source →
- Free full text: Orphanet Journal of Rare Diseases →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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