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Hereditary Cerebral Small Vessel Disease

merylg

Senior Member
Messages
841
Location
Sydney, NSW, Australia
The cause of this has been found to be a mutation in the High Temperature Requirement-1 (HTRA1) gene. In the aberrant process, mutant HTRA1s have been shown to lose their protease activity leading to an increase in TGF-Beta family signalling.

TGF-Beta family signalling defects are associated with scoliosis & alopecia.

TGF-Beta family signalling defects are also associated with Marfan's/Loey Dietz Syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/22277429

Angiotensin 1 Receptor Antagonist...a potential therapeutic...(already in use I believe)

Wondering how many with ME/CFS have a family history of vascular dementia? This could be part of the picture.

http://www.ncbi.nlm.nih.gov/pubmed/21301034

Hmmm...also thought to be associated with degenerative disc disease...
 

Countrygirl

Senior Member
Messages
5,468
Location
UK
My mother has vascular dementia and I have scoliosis, degenerative disc problems and alopecia. My brain scan after one of my stroke-type episodes showed lesions in the right basal ganglia.

I am not looking forward to the future then. :ill: