SynthesisActa bio-medica : Atenei Parmensis2020
Prevalence of Huntington Disease in Italy: a systematic review and meta-analysis.
Synthesis in Acta bio-medica : Atenei Parmensis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta-Analysis.Movement disorders : official journal of the Movement Disorder Society · 2022Pooled it
- Paradigms and Success Stories of Natural Products in Drug Discovery Against Neurodegenerative Disorders (NDDs).Current neuropharmacology · 2024Article
- [Huntington disease in the Valencian Region].Revista de neurologia · 2023Article
- Healthcare utilization, costs, and epidemiology of Huntington's disease in Israel.Clinical parkinsonism & related disorders · 2023Article
- Investigating the Regulation of Neural Differentiation and Injury in PC12 Cells Using Microstructure Topographic Cues.Biosensors · 2021Article
- Mutant Huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease.Nature communications · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Worldwide prevalence of Huntington's disease (HD) is quite heterogenous. As Italy is characterized by significant genetic heterogeneity, with presumptive differences between Italian regions, this review was undertaken to define available data of HD prevalence in Italy, to assess geographic heterogeneity, and reconcile possible variation in HD prevalence rates with the availability of genetic testing.
methodsIn total, 14 relevant studies were identified from Medline/Embase, and analysis of available Italian regional reports on rare diseases.
resultsA cumulative prevalence of 3.9/100,000 inhabitants (95% Confidence Interval 3.0 - 5.0) was identified, with apparently higher rates in the last decades (4.1/100,000 vs. 3.0/100,000). The lowest rates were among the resident of the Oristano province in Sardinia, while the highest were reported in three mountainous and rather isolated areas (i.e. Molise, San Marino, Varese; all well over 10 cases/100,000 inhabitants). These differences cannot be not fully explained by varying approaches to case-ascertainment or diagnosis, and a possible "founder effect" may therefore be extensively advocated. DISCUSSION: The prevalence of HD in retrieved Italian reports varied up to almost tenfold between different geographical regions. Even though such variation can in part be attributed to differences in case-ascertainment and/or diagnostic criteria, there is consistent evidence of significant founder effects in certain areas such as the provinces of Varese, the Republic of San Marino, and the region od Molise - all of them with estimates > 10/100,000 cases. As our estimates suggest that up to half of Italian HD cases may be still waiting, Public Health approach should improve diagnostic rates in order to guaranteeing palliative and symptomatic interventions (antidepressants, antipsychotics, anti-choreiform medications) to all individuals and their families.
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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.