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Related Concept Videos

Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

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Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and...
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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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Symmetric Bihemispheric Postmortem Brain Cutting to Study Healthy and Pathological Brain Conditions in Humans
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Quantifying multimodal longitudinal brain changes in presymptomatic C9orf72 disease.

Dario Saracino1,2,3, Lorenzo Cipriano1, Marion Houot1,2,4

  • 1Paris Brain Institute-Institut du Cerveau-ICM, Sorbonne Université, Inserm U1127, CNRS UMR 7225, AP-HP-Hôpital Pitié-Salpêtrière, Paris, France.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 10, 2025
PubMed
Summary
This summary is machine-generated.

Presymptomatic carriers of C9orf72 gene expansion show faster brain atrophy in key regions like the putamen and insula. Annualized rate of change in MRI scans can serve as a biomarker for tracking disease progression.

Keywords:
C9orf72amyotrophic lateral sclerosis (ALS)basal gangliabiomarkerclinical trialsdiffusion tensor imaging (DTI)frontotemporal dementia (FTD)frontotemporal lobar degeneration (FTLD)geneticlongitudinalmagnetic resonance imaging (MRI)neurofilamentsneuroimagingpresymptomaticvoxel‐based morphometry

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Area of Science:

  • Neuroimaging
  • Neurodegenerative Diseases
  • Genetics

Background:

  • Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) linked to C9orf72 repeat expansion exhibit early, widespread brain changes.
  • A need exists for quantitative magnetic resonance imaging (MRI)-derived measures to track disease progression in the presymptomatic phase.

Purpose of the Study:

  • To identify and quantify longitudinal gray and white matter changes in presymptomatic C9orf72 carriers using MRI.
  • To establish MRI-derived biomarkers for disease surveillance and therapeutic monitoring.

Main Methods:

  • Compared longitudinal gray matter (GM) and white matter (WM) changes over 3 years in 66 presymptomatic C9orf72 carriers and 52 controls.
  • Calculated the annualized rate of change (ARC) for various brain structures and diffusion metrics.
  • Correlated MRI findings with neurofilament levels.

Main Results:

  • Presymptomatic carriers showed significantly faster atrophy in the putamen and left insula compared to controls, particularly those over 40.
  • Increased mean diffusivity was observed first in the left uncinate fasciculus, then in thalamo-cortical tracts, correlating with higher neurofilament levels.
  • The ARC of GM and WM changes in specific regions was significantly higher in carriers.

Conclusions:

  • Specific GM and WM structures demonstrate the most significant longitudinal decline during the presymptomatic stage of C9orf72-associated FTD/ALS.
  • The annualized rate of change (ARC) in these identified structures serves as a promising MRI-derived biomarker for monitoring disease progression and treatment efficacy.