E
E. Almqvist
Researcher at University of British Columbia
Publications - 37
Citations - 4696
E. Almqvist is an academic researcher from University of British Columbia. The author has contributed to research in topics: Predictive testing & Age of onset. The author has an hindex of 30, co-authored 37 publications receiving 4543 citations. Previous affiliations of E. Almqvist include United States Department of Veterans Affairs & Karolinska Institutet.
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Journal ArticleDOI
A Worldwide Study of the Huntington's Disease Mutation: The Sensitivity and Specificity of Measuring CAG Repeats
B. Kremer,Paul Goldberg,S E Andrew,J Theilmann,H Telenius,J Zeisler,Ferdinando Squitieri,Biaoyang Lin,Bassett A,E. Almqvist +9 more
TL;DR: CAG trinucleotide expansion is the molecular basis of Huntington's disease worldwide and is a highly sensitive and specific marker for inheritance of the disease mutation.
Journal Article
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.
David C. Rubinsztein,Jayne Leggo,Rhian Coles,E. Almqvist,Biancalana,Jean Jaques Cassiman,Chotai K,Connarty M,Crauford D,Curtis A,Curtis D,Mark Davidson,Differ Am,Catherine Dodé,A Dodge,Marina Frontali,N G Ranen,O C Stine,M. Sherr,M. H. Abbott,Mary L. Franz,Colin A. Graham,Peter S. Harper,John C. Hedreen,Michael R. Hayden +24 more
TL;DR: Optimized methods for reliable sizing of CAG repeats are optimized and cases that demonstrate the dangers of using PCR assays that include both the CAG and CCG polymorphisms are shown.
Journal Article
The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size.
TL;DR: A large cohort of affected and asymptomatic at-risk persons with CAG expansion is analyzed, finding that only a proportion of those with a CAG repeat length of 36-41 showed signs or symptoms of HD within a normal life span.
Journal ArticleDOI
A Worldwide Assessment of the Frequency of Suicide, Suicide Attempts, or Psychiatric Hospitalization after Predictive Testing for Huntington Disease
TL;DR: Insight is provided into the frequency, associated factors, and timing of CEs in a worldwide cohort of persons receiving predictive-testing results and, as such, highlight persons for whom ongoing support may be beneficial.
Journal ArticleDOI
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
Ferdinando Squitieri,Cinzia Gellera,Milena Cannella,Caterina Mariotti,Giuliana Cislaghi,David C. Rubinsztein,E. Almqvist,David R. Turner,Anne-Catherine Bachoud-Lévi,Sheila A. Simpson,Martin B. Delatycki,Vittorio Maglione,Michael R. Hayden,Stefano Di Donato +13 more
TL;DR: Differences in the disease features between eight homozygotes and 75 heterozygotes for the Huntington disease mutation point to the possibility that the mechanisms underlying age at onset and disease progression in Huntington disease may differ, and suggest that the phenotype and the rate of disease progression may differ.