Candice Junge

Onset of Alzheimer disease in apolipoprotein ɛ4 carriers is earlier in butyrylcholinesterase K variant carriers

Roger Lane, Taher Darreh‐Shori, Candice Junge, Dan Li et autres

Abstract Background The authors sought to examine the impact of the K-variant of butyrylcholinesterase ( BCHE-K ) carrier status on age-at-diagnosis of Alzheimer disease (AD) in APOE4 carriers. Methods Patients aged 50–74 years with cerebrospinal fluid (CSF) biomarker-confirmed AD, were recruited to …

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ATXN7-Related Cone-Rod Dystrophy

Marco Nassisi, Giulia Coarelli, Benoît Blanchard, Charlotte Dubec‐Fleury et autres

Importance: Reliable biomarkers with diagnostic and prognostic values are needed for upcoming gene therapy trials for spinocerebellar ataxias. Objective: To identify ophthalmological biomarkers in a sample of spinocerebellar ataxia type 7 (SCA7) carriers. Design, Setting, and Participants: This article presents baseline data …

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Onset of Alzheimer disease in apolipoprotein ɛ4 carriers is earlier in butyrylcholinesterase K variant carriers

Roger Lane, Taher Darreh‐Shori, Candice Junge, Dan Li et autres

Abstract Background We wished to examine the impact of the K-variant of butyrylcholinesterase ( BCHE-K ) carrier status on age-at-diagnosis of Alzheimer disease (AD) in APOE4 carriers. Methods In 45 patients, aged 50-74 years, with cerebrospinal fluid (CSF) biomarker confirmed mild AD, …

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Butyrylcholinesterase Kalow variant reduces age‐of‐onset of Alzheimer Disease in apolipoprotein ɛ4 carriers

Roger Lane, Candice Junge, Dan Li, Qingqing Yang et autres

Abstract Background Previous investigations suggest carrier status for Karlow‐variant single‐nucleotide polymorphism (SNP) of butyrylcholinesterase (BCHE‐K) is associated with an earlier age‐at‐onset of AD in APOE4 carriers. Method In 45 mild AD patients, 50‐74 years, recruited into a clinical trial (NCT03186989), baseline characteristics …

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Exploratory Tau Biomarker Results From a Multiple Ascending-Dose Study of BIIB080 in Alzheimer Disease

Amanda Edwards, Jessica Collins, Candice Junge, Holly Kordasiewicz et autres

Importance: Accumulation of hyperphosphorylated, tangled microtubule-associated protein tau (MAPT) is a pathological hallmark of Alzheimer disease (AD) associated with disease progression and cognitive decline. Objective: To evaluate the effect of tau synthesis reduction on tau biomarkers in patients with mild AD. Design, …

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Author Correction: Tau-targeting antisense oligonucleotide MAPTRx in mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Catherine J. Mummery, Anne Börjesson‐Hanson, D. Blackburn, Everard G.B. Vijverberg et autres

In the version of this article initially published, the affiliation for Daniel Blackburn was incomplete and has been amended to read “Sheffield Teaching Hospital NHS Foundation Trust, NIHR Sheffield Clinical Research Facility and NIHR Sheffield Biomedical Research Centre, Royal Hallamshire Hospital, Sheffield, …

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Tau-targeting antisense oligonucleotide MAPTRx in mild Alzheimer’s disease: a phase 1b, randomized, placebo-controlled trial

Catherine J. Mummery, Anne Börjesson‐Hanson, D. Blackburn, Everard G.B. Vijverberg et autres

Abstract Tau plays a key role in Alzheimer’s disease (AD) pathophysiology, and accumulating evidence suggests that lowering tau may reduce this pathology. We sought to inhibit MAPT expression with a tau-targeting antisense oligonucleotide (MAPT Rx ) and reduce tau levels in patients …

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Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact

Katrina M Moore, Nicole I. Wolf, Grace M. Hobson, Kristina Bowyer et autres

Pelizaeus-Merzbacher disease is a rare X-linked leukodystrophy accompanied by central nervous system hypomyelination with a spectrum of clinical phenotypes. This is the first survey of caregivers of individuals with Pelizaeus-Merzbacher disease to investigate the presenting symptoms, path to diagnosis, identity and impact …

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Results of the first‐in‐human, randomized, double‐blind, placebo‐controlled phase 1b study of lumbar intrathecal bolus administrations of antisense oligonucleotide (ISIS 814907; BIIB080) targeting tau mRNA in patients with mild Alzheimer’s disease

Catherine J. Mummery, Candice Junge, Holly Kordasiewicz, Laurence Mignon et autres

Abstract Background ISIS 814907 (BIIB080) is an antisense oligonucleotide (ASO) that hybridizes to a complementary nucleotide sequence of mRNA of the human microtubule‐associated protein tau (MAPT) gene, preventing production of tau protein. Accumulation of hyperphosphorylated tau is associated with cognitive decline and …

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A Randomized, Controlled Pilot Study of Autologous CD34+ Cell Therapy for Critical Limb Ischemia

Bret N. Wiechmann, Suhail Dohad, Tina Thorne, Meredith Millay et autres

Critical limb ischemia (CLI) portends a risk of major amputation of 25-35% within 1 year of diagnosis. Pre-clinical studies provide evidence that intramuscular injection of autologous CD34+ cells improve limb perfusion and reduce amputation risk. In this randomized, double-blind, placebo-controlled pilot study, …

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PreSERVE-AMI

Arshed A. Quyyumi, Alejandro Arias Vásquez, Dean J. Kereiakes, Marc Klapholz et autres

RATIONALE: Despite direct immediate intervention and therapy, ST-segment-elevation myocardial infarction (STEMI) victims remain at risk for infarct expansion, heart failure, reinfarction, repeat revascularization, and death. OBJECTIVE: To evaluate the safety and bioactivity of autologous CD34+ cell (CLBS10) intracoronary infusion in patients with …

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The RENEW Trial

Thomas J. Povsic, Timothy D. Henry, Jay H. Traverse, F. David Fortuin et autres

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