FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4246635062> ?p ?o ?g. }

• W4246635062 endingPage "1463" @default.
• W4246635062 startingPage "1463" @default.
• W4246635062 abstract "Michael Rawlins (Oct 23, p 1372)1Rawlins M Huntington's disease out of the closet?.Lancet. 2010; 376: 1372-1373Summary Full Text Full Text PDF PubMed Scopus (31) Google Scholar comments that the prevalence of Huntington's disease is rising. We would like to suggest several additional explanations for this finding.First, the baby-boomers are now in their 50s–60s. Typically Huntington's disease begins in the 30s–40s, but given the duration of illness, peak prevalence actually occurs in the 50s–60s. We explored the effect of this large baby-boomer birth cohort on Huntington's disease prevalence, using age-specific data from our 1996 study.2McCusker EA Casse RF Graham SJ Williams DB Lazarus R Prevalence of Huntington disease in New South Wales in 1996.Med J Aust. 2000; 173: 187-190PubMed Google Scholar Prevalence of Huntington's disease in New South Wales, Australia, would have increased from 6·3 per 100 000 in 1996 to 6·8 per 100 000 in 2009 on the basis of changes in population structure alone.Second, we continue to meet new patients with no family history. 6% of the general population carries an intermediate allele (27–35 CAG repeats) for Huntington's disease.3Sequeiros J Ramos EM Cerqueira J et al.Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.Clin Genet. 2010; 78: 381-387Crossref PubMed Scopus (52) Google Scholar Although the frequency of intermediate alleles expanding to new mutations is unclear,4Semaka A Collins JA Hayden MR Unstable familial transmissions of Huntington disease alleles with 27–35 CAG repeats (intermediate alleles).Am J Med Genet B Neuropsychiatr Genet. 2010; 153B: 314-320PubMed Google Scholar new mutations do occur and can account for up to 4% of cases.5Ramos-Arroyo MA Moreno S Valiente A Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.J Neurol Neurosurg Psychiatry. 2005; 76: 337-342Crossref PubMed Scopus (57) Google ScholarAnecdotally we too have seen an increase in prevalence of Huntington's disease, albeit not to the same extent as Rawlins. We care for about 71% of people with Huntington's disease in the state of New South Wales. In 2010, after adjusting for population growth, our service is still supporting 5·5% more patients than our 1996 prevalence would have predicted. There are potential biases in extrapolating our data on service use to prevalence, and a repeat prevalence study is required for a definitive answer. Nonetheless, this observation would support Rawlins'. Thus we applaud his effort in highlighting this problem, and in establishing the All Party Parliamentary Group on Huntington's Disease.We declare that we have no conflicts of interest. Michael Rawlins (Oct 23, p 1372)1Rawlins M Huntington's disease out of the closet?.Lancet. 2010; 376: 1372-1373Summary Full Text Full Text PDF PubMed Scopus (31) Google Scholar comments that the prevalence of Huntington's disease is rising. We would like to suggest several additional explanations for this finding. First, the baby-boomers are now in their 50s–60s. Typically Huntington's disease begins in the 30s–40s, but given the duration of illness, peak prevalence actually occurs in the 50s–60s. We explored the effect of this large baby-boomer birth cohort on Huntington's disease prevalence, using age-specific data from our 1996 study.2McCusker EA Casse RF Graham SJ Williams DB Lazarus R Prevalence of Huntington disease in New South Wales in 1996.Med J Aust. 2000; 173: 187-190PubMed Google Scholar Prevalence of Huntington's disease in New South Wales, Australia, would have increased from 6·3 per 100 000 in 1996 to 6·8 per 100 000 in 2009 on the basis of changes in population structure alone. Second, we continue to meet new patients with no family history. 6% of the general population carries an intermediate allele (27–35 CAG repeats) for Huntington's disease.3Sequeiros J Ramos EM Cerqueira J et al.Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.Clin Genet. 2010; 78: 381-387Crossref PubMed Scopus (52) Google Scholar Although the frequency of intermediate alleles expanding to new mutations is unclear,4Semaka A Collins JA Hayden MR Unstable familial transmissions of Huntington disease alleles with 27–35 CAG repeats (intermediate alleles).Am J Med Genet B Neuropsychiatr Genet. 2010; 153B: 314-320PubMed Google Scholar new mutations do occur and can account for up to 4% of cases.5Ramos-Arroyo MA Moreno S Valiente A Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing.J Neurol Neurosurg Psychiatry. 2005; 76: 337-342Crossref PubMed Scopus (57) Google Scholar Anecdotally we too have seen an increase in prevalence of Huntington's disease, albeit not to the same extent as Rawlins. We care for about 71% of people with Huntington's disease in the state of New South Wales. In 2010, after adjusting for population growth, our service is still supporting 5·5% more patients than our 1996 prevalence would have predicted. There are potential biases in extrapolating our data on service use to prevalence, and a repeat prevalence study is required for a definitive answer. Nonetheless, this observation would support Rawlins'. Thus we applaud his effort in highlighting this problem, and in establishing the All Party Parliamentary Group on Huntington's Disease. We declare that we have no conflicts of interest." @default.
• W4246635062 created "2022-05-12" @default.
• W4246635062 creator A5047468835 @default.
• W4246635062 creator A5082154020 @default.
• W4246635062 creator A5087048842 @default.
• W4246635062 date "2010-10-01" @default.
• W4246635062 modified "2023-09-27" @default.
• W4246635062 title "Huntington's disease" @default.
• W4246635062 cites W16313287 @default.
• W4246635062 cites W1996240521 @default.
• W4246635062 cites W2135764047 @default.
• W4246635062 cites W2166767204 @default.
• W4246635062 doi "https://doi.org/10.1016/s0140-6736(10)61988-5" @default.
• W4246635062 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21036269" @default.
• W4246635062 hasPublicationYear "2010" @default.
• W4246635062 type Work @default.
• W4246635062 citedByCount "5" @default.
• W4246635062 countsByYear W42466350622013 @default.
• W4246635062 countsByYear W42466350622017 @default.
• W4246635062 countsByYear W42466350622019 @default.
• W4246635062 crossrefType "journal-article" @default.
• W4246635062 hasAuthorship W4246635062A5047468835 @default.
• W4246635062 hasAuthorship W4246635062A5082154020 @default.
• W4246635062 hasAuthorship W4246635062A5087048842 @default.
• W4246635062 hasBestOaLocation W42466350621 @default.
• W4246635062 hasConcept C104317684 @default.
• W4246635062 hasConcept C126322002 @default.
• W4246635062 hasConcept C127716648 @default.
• W4246635062 hasConcept C144024400 @default.
• W4246635062 hasConcept C149923435 @default.
• W4246635062 hasConcept C200544954 @default.
• W4246635062 hasConcept C2779134260 @default.
• W4246635062 hasConcept C2780647506 @default.
• W4246635062 hasConcept C2908647359 @default.
• W4246635062 hasConcept C54355233 @default.
• W4246635062 hasConcept C71924100 @default.
• W4246635062 hasConcept C72563966 @default.
• W4246635062 hasConcept C86803240 @default.
• W4246635062 hasConceptScore W4246635062C104317684 @default.
• W4246635062 hasConceptScore W4246635062C126322002 @default.
• W4246635062 hasConceptScore W4246635062C127716648 @default.
• W4246635062 hasConceptScore W4246635062C144024400 @default.
• W4246635062 hasConceptScore W4246635062C149923435 @default.
• W4246635062 hasConceptScore W4246635062C200544954 @default.
• W4246635062 hasConceptScore W4246635062C2779134260 @default.
• W4246635062 hasConceptScore W4246635062C2780647506 @default.
• W4246635062 hasConceptScore W4246635062C2908647359 @default.
• W4246635062 hasConceptScore W4246635062C54355233 @default.
• W4246635062 hasConceptScore W4246635062C71924100 @default.
• W4246635062 hasConceptScore W4246635062C72563966 @default.
• W4246635062 hasConceptScore W4246635062C86803240 @default.
• W4246635062 hasIssue "9751" @default.
• W4246635062 hasLocation W42466350621 @default.
• W4246635062 hasLocation W42466350622 @default.
• W4246635062 hasOpenAccess W4246635062 @default.
• W4246635062 hasPrimaryLocation W42466350621 @default.
• W4246635062 hasRelatedWork W1566646394 @default.
• W4246635062 hasRelatedWork W1756407503 @default.
• W4246635062 hasRelatedWork W2030725658 @default.
• W4246635062 hasRelatedWork W2153163442 @default.
• W4246635062 hasRelatedWork W2315085516 @default.
• W4246635062 hasRelatedWork W2408232601 @default.
• W4246635062 hasRelatedWork W2513374159 @default.
• W4246635062 hasRelatedWork W2603773853 @default.
• W4246635062 hasRelatedWork W263587798 @default.
• W4246635062 hasRelatedWork W2957671375 @default.
• W4246635062 hasVolume "376" @default.
• W4246635062 isParatext "false" @default.
• W4246635062 isRetracted "false" @default.
• W4246635062 workType "article" @default.