Discover and read the best of Twitter Threads about #CADASIL
Most recents (2)
#WeekendLecture
#GeneticsAndStroke
#Genetics is involved in several #stroke related conditions, such as small vessel disease #SVD, aneurysms, dissections, cavernomas, and intracranial #hemorrhages
Check this 🧵!
Prepared by @J_Rosales_MD
Edited by @interneurona
#GeneticsAndStroke
#Genetics is involved in several #stroke related conditions, such as small vessel disease #SVD, aneurysms, dissections, cavernomas, and intracranial #hemorrhages
Check this 🧵!
Prepared by @J_Rosales_MD
Edited by @interneurona
#Weekendlecture
#Genetic & #SVD
🧬🧠
✅1,5% of cerebral #SVD are #monogenic disorders
✅AR, AD or X-linked
☝🏼Absence of family history doesn't rule out diagnosis because of
👉de novo mutation
👉reduced expression or
👉incomplete penetrance
✅ahajournals.org/doi/10.1161/ST…
#Genetic & #SVD
🧬🧠
✅1,5% of cerebral #SVD are #monogenic disorders
✅AR, AD or X-linked
☝🏼Absence of family history doesn't rule out diagnosis because of
👉de novo mutation
👉reduced expression or
👉incomplete penetrance
✅ahajournals.org/doi/10.1161/ST…
#Weekendlecture
#Genetic & #SVD
When to #suspect?🕵️♀️
✅early onset stroke without vascular RFs
✅systemic features and neuroimaging of an specific monogenic disorder
✅consanguinity
✅negative work up for other causes of SVD
👉ahajournals.org/doi/10.1161/ST…
#Genetic & #SVD
When to #suspect?🕵️♀️
✅early onset stroke without vascular RFs
✅systemic features and neuroimaging of an specific monogenic disorder
✅consanguinity
✅negative work up for other causes of SVD
👉ahajournals.org/doi/10.1161/ST…
#WeekendLecture
#CerebralMicrobleeds #CMB
Radiological construct: small (2–10 mm diameter) round or ovoid #hypointense foci with associated #blooming with enhanced visibility on #MRI sequences sensitive to #susceptibility effects
thelancet.com/journals/laneu…
#CerebralMicrobleeds #CMB
Radiological construct: small (2–10 mm diameter) round or ovoid #hypointense foci with associated #blooming with enhanced visibility on #MRI sequences sensitive to #susceptibility effects
thelancet.com/journals/laneu…
#WeekendLecture
#CMB
🔬#Pathology: recent or old microhaemorrhages
🩸Microvessel injuries, ie: dilatation/fragmentation of the wall, amyloid-ß (in CAA) and fibrin extravasation
🩸Extravasation of red blood cells
🩸#hemosiderin-laden macrophages
karger.com/Article/FullTe…
#CMB
🔬#Pathology: recent or old microhaemorrhages
🩸Microvessel injuries, ie: dilatation/fragmentation of the wall, amyloid-ß (in CAA) and fibrin extravasation
🩸Extravasation of red blood cells
🩸#hemosiderin-laden macrophages
karger.com/Article/FullTe…
#WeekendLecture
In daily practice #CMB represents a radiological marker of #small vessel disease
In general:
🩸Strictly #lobar CMBs👉CAA
🩸Strictly #deep👉hypertension-related SVD ie #arteriolosclerosis
🩸Mixed 👉combination👆, but must think #hereditary #SVD, ie #CADASIL
In daily practice #CMB represents a radiological marker of #small vessel disease
In general:
🩸Strictly #lobar CMBs👉CAA
🩸Strictly #deep👉hypertension-related SVD ie #arteriolosclerosis
🩸Mixed 👉combination👆, but must think #hereditary #SVD, ie #CADASIL
