"A characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention." 🩸🧠
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Introduction
What is the use of biomarkers? 🧠
Diagnostic tool🪓
Tool for staging the disease 🥼
Indicator of prognosis📡
Predic or monitor of clinical response to an intervention🚨
Remember: "tools"should aid clinicians, not be the source of all truth.
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⚠️⚠️Disclaimer
The following thread will present a few Imaging and other biomarkers that can help aid the diagnosis of DLB.
There are some fluid biomarkers which their role in routine clinical diagnosis is yet to be established. Those will not be mentioned today.
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MRI 🏥
Insular atrophy? Useful in pro-DLB? ( 🔵 arrow)
🦪Relative preservation of medial temporal lobe ( vs AD)
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DAT-Scan
"Reduced DAT binding suggests nigrostriatal degeneration."
Useful in DLB vs AD DDx, not between "degenerative parkinsoninsm-syndromes".
NC: normal cognition.
🦪Check the asymmetry
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SPECT/PET
🦪🏝️Sign
Hypometabolism in the lateral occipital cortex and precuneus with relatively spared metabolism in the posterior cingulate (🟡 arrows) and medial temporal lobe (🔴 arrow)
Biomarkers are only helpful in the proper clinical context. Without suggestive symptoms, the result is difficult to interpret and the usefulness fades away. ⚠️🚨
a) Spinal-Onset ALS
b) Progressive Muscular Atrophy
c) Progressive Bulbar Palsy/Bulbar-onset ALS
d) Facial onset sensory and motor neuronopathy (FOSMN)
e) Flail-arm syndrome (Vulpian-Bernhardt syndrome): LMN upper limbs and UMN (usually only brisk reflexes in lower limbs)
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f) Hirayama disease: monomelic amyotrophy
g) O’Sullivan-McLeod syndrome: slowly progressive distal amyotrophy of the hands and forearms extending over long periods of time
h) Flail-leg syndrome
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DLB belongs to a family of disorders typically known as "synucleinopathies" 🔬
Other members are:
- MSA
- PD
- PDD
All of them have abnormal inclusions of α-Synuclein at a pathological level.
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⚠️⚠️⚠️
"Pathology is not pathogenesis", therefore we shouldn't assume that the presence of these pathological changes are a synonym of "protein toxicity".