Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.
Maha Yektay FarahmandJohan WasseliusElisabet EnglundIrwin BravermanAndreas PuschmannAndreea IlincaPublished in: Neurologia i neurochirurgia polska (2024)
Patients with these PDGFB variants develop microvascular changes in the brain, but not the skin. PDGFB-related small vessel disease can manifest radiologically as cerebral haemorrhage or ischaemia, and may explain TIA or stroke in patients without other vascular risk factors.
Keyphrases
- end stage renal disease
- risk factors
- chronic kidney disease
- cerebral ischemia
- resting state
- ejection fraction
- copy number
- white matter
- newly diagnosed
- atrial fibrillation
- subarachnoid hemorrhage
- prognostic factors
- peritoneal dialysis
- functional connectivity
- early onset
- patient reported outcomes
- multiple sclerosis
- gene expression
- soft tissue
- brain injury
- dna methylation
- wound healing
- patient reported