Stephanie Schultz

Instructor @ MGH/ Harvard Med: AD biomarkers | Unraveling heterogeneity in AD | K01 awardee | catch me in the 🏔️ 🥾

[Stephanie Schultz @Schultz_SA]

Work with @MathiasJucker showing neurofilment light chain (NfL) in both CSF and blood are early markers of neurodegeneration, but diverge in symptomatic (autosomal dominant) AD patients -> CSF NfL may be better for monitoring outcomes in symptomatic AD https://t.co/6rFqABdEMM

[Celeste Karch @karchlab]

Excited to share our recent paper! We use genetics, bioinformatics, and cell-based studies to determine whether variants of unknown significance act as pathogenic variants to cause autosomal dominant Alzheimer’s disease @alzassociation @WashUMedADRC https://t.co/6coplp6dpI

[Mathias Jucker @MathiasJucker]

Wonderful summary of our results, thank you @alzforum. NfL is becoming so important as a readout in clinical Alzheimer trials! Do CSF and Plasma NfL Diverge After Alzheimer’s Disease Onset? https://t.co/s4FnppMi8Z

[Amsterdam Neuroscience | Amsterdam UMC @AmsNeuroscience]

🎉Congratulations @bettytijms! She has been awarded a @ERC_Research Consolidator Grant. With nearly 3 million euros in funding, she will investigate whether the 5 biological variants of Alzheimer’s disease respond differently to medication: https://t.co/X1jNUogQKi @AlzheimerAms

[Elisa Resende @Elisa_Resende_]

In preparation for the @ReservePIA year in review webinar in January, we are compiling the most important papers published last year about 🧠 reserve and resilience. Please, consider helping us finding the papers by completing the survey https://t.co/NUaY82FL2c

[Alzforum @alzforum]

In familial symptomatic Alzheimer's, NfL in CSF may track neurodegeneration more closely than in blood. @MassGeneralNews https://t.co/yJvk37xrSV

[Wendy Yau @WendyYau01]

Excited to share our @FraminghamStudy paper in @ANA_journals!🧠 Sex-specific links between stroke risk factors and subclinical vascular brain injury support tailored prevention strategies in aging.👇https://t.co/EjPjwiHEyA

Big thanks to @sudha_md, Alexa, Matt, @bucklr01 & team!

[Roos Jutten @RoosJutten]

🔔👉@CognitionPia members, we need your input! In preparation for our @ISTAART Cognition PIA 2024 Year in Review webinar, please fill out this survey to submit publications & advancements from 2024 that you would like us to highlight. Deadline *Dec 9th*! 🙏https://t.co/dD9PWNILyW

[Baayla DC Boon @BaaylaB]

Beautiful work by Liu et al. highlighting the importance of heterogeneity in amyloid-beta pathology, especially in the era of amyloid targeting therapies. I remember seeing this work at ADPD and am excited to see it published! @ElzHead @M_B_Miller
https://t.co/8qBvb4ZuMr

[Stephanie Schultz @Schultz_SA]

Our latest study out today! Findings reveal PSEN2 variants with known PSEN1 homolog variant show abnormal Aβ production patterns strongly correlated with age at symptom onset, while non-homologous PSEN2 variants often exhibit wild-type-like Aβ ratios
https://t.co/HbOCiEKMIP

[Mathias Jucker @MathiasJucker]

Trajectories of neurofilament light chain (a presumed marker of neurodegeneration) in CSF and blood over the entire course of (autosomal dominant) #Alzheimer's disease. https://t.co/zK0UCq33NC Great collaboration with @Schultz_SA @DZNE_en @HIHTuebingen

[Suzanne E Schindler @SuzanneESchind1]

Having started my career in basic neuroscience research, I have always understood Alzheimer disease to mean the pathophysiology associated with amyloid plaques and tau tangles. As a clinician, I appreciate that the relationship between Alzheimer disease and cognitive impairment is complex.

1. Clinically diagnosing the cause of cognitive impairment is different than diagnosing that the patient has Alzheimer disease (pathology). Many of my patients with cognitive impairment have multiple diagnoses (e.g., sleep apnea, medication-related cognitive dysfunction, depression, previous cerebral infarction), and sometimes have Alzheimer disease (based on biomarker testing). I do what I can to mitigate the effects of all of these conditions, and when Alzheimer disease is present I do not assume that it is the sole or even the primary cause of cognitive impairment. This is true across multiple potential etiologies: for example, I may diagnose someone with cerebrovascular disease and a prior infarct based on MRI findings, but determine that this condition is asymptomatic and not contributing to their cognitive impairment.

2. Given the simplicity of some biomarker tests and the difficulty of clinical assessment, there is a risk that clinicians may diagnose the etiology of cognitive impairment as Alzheimer disease without doing a full work-up. This is why appropriate use recommendations for biomarkers always mandate that biomarker results must be integrated with a clinical evaluation and not used as a “stand-alone.”

3. Alzheimer disease pathology accumulates silently for ~10-20 years before the onset of cognitive impairment. However, during this pre-clinical phase the accumulation of amyloid pathology is associated with many other biomarker changes that appear pathological (e.g., abnormal CSF synaptic biomarkers, brain atrophy, brain hypometabolism). While the brain is remarkably resilient to damage and individuals may or may not develop symptoms, the brain is sick and the pre-clinical phase is a disease state.

4. Suggesting that a disease only exists when organs are severely damaged and failing (dementia) seems counter to what we have learned in other areas of medicine. For example, patients diagnosed with hypertension or asymptomatic coronary artery disease may change their diet and medications to avoid a heart attack. Individuals with asymptomatic chronic kidney disease may or may not go on to require dialysis, but they can be monitored and sometimes treated.

5. There are valid concerns about the stigma and risks of asymptomatic individuals being labeled as having Alzheimer disease given that they may or may not develop cognitive impairment. The solution is simple—we don’t perform biomarker testing in asymptomatic individuals outside of research studies or clinical trials. Again, this has been mandated by appropriate use recommendations for biomarkers.

We can help patients by promoting accurate understanding and appropriate use of biomarkers. #EndAlz

[Maude W @maude_wagner2]

🙌 @DesignDataPIA & @ReservePIA offer you a unique "#Resilience in #CognitiveAging" Webinar Series! Join us if you can 😎

Registration
DEC 6 👉 https://t.co/KcEUQIBdby
DEC 11 👉 https://t.co/8JbrGoIrAC

@ytquiroz @ERogalskiPhD @RoreBole @ArenazaEider @DrAnaCapuano @DBartres_Faz

[HumanAmyloidImaging @HAIconference]

Caesar delayed the Rubicon, King Arthur’s still wrangling stats with Merlin 🧙‍♂️, Michelangelo cracked his marble 🛠️, and Napoleon? He’s fine-tuning his graphs! 📊
SO… we’re pushing the abstract deadline to Tuesday, October 29, at NOON (US ET) ⏳
#HAI2024 #AbstractMadness

[Wisconsin ADRC @WisconsinADRC]

This week, Dr. Reisa Sperling returns to the podcast to explore the different factors that can impact cognitive decline and early-stage #Alzheimers disease. Listen to her conversation with @NathanielChinMD on our website at https://t.co/xpst0gl3YG or wherever you get your podcasts.

[Alzforum @alzforum]

How presenilin mutations shift γ-secretase’s output of short versus long Aβ peptides explains the speed of pathogenesis and age at onset, supporting GSM development. @MGHNeurology @Schultz_SA @alzassociation #AAIC https://t.co/TfpvChoNjD

[Stephanie Schultz @Schultz_SA]

I am excited to share our work, out now in @TheLancetNeuro, showing cell-based measures of gamma-secretase activity and amyloid production predict clinical, cognitive and biomarker features in autosomal dominant AD.

Link to paper: https://t.co/iej2cBmFJo

@alzassociation #AAIC

[Celeste Karch @karchlab]

Happy to have been able to make a tiny contribution to this beautiful work by ⁦@ZhaoSun4⁩ and Andrew Yoo…
Modeling late-onset AD neuropathology via direct neuronal reprogramming ⁦@WUADRC⁩ https://t.co/nhSMaCoiF0

[Jungsu Kim @jungsukim77]

An amazing story ❤️

[Stephanie Schultz @Schultz_SA]

I am excited to share our work, out now in @TheLancetNeuro, showing cell-based measures of gamma-secretase activity and amyloid production predict clinical, cognitive and biomarker features in autosomal dominant AD.

Link to paper: https://t.co/iej2cBmFJo

@alzassociation #AAIC