Van egy betegség (incontinentia pigmenti), ahol a RIPK3 túlaktíválása genetikai és nem a covid miatt alakul ki. Ennek a betegségnek a neurológiai tüneteit leírták: így fog kinézni az agyunk a covid hullámok miatt, ha nem teszünk ellene valamit. Miért? Mert a covid bizonyítottan túlaktíválja az agysejtelhalást elősegítő RIPK3 fehérjét: agyi elhalás, stroke, epilepszia stb……….
European Journal of Medical Genetics
Volume 55, Issue 5, May 2012, Pages 323-331
European Journal of Medical Genetics
Review
Neurological findings in incontinentia pigmenti; a review
Author links open overlay panelMarije E.C.Meuwissen
Abstract
Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations. Neurological manifestations are found in 30% of IP patients, forming one of the major causes of morbidity and mortality of the condition. In this review, clinical and brain imaging data of 45 IP patients with a neurological phenotype are reviewed. Several clinical presentations could be identified, comprising seizures, infantile encephalopathy, acute disseminated encephalomyelitis and ischemic stroke. Most neurological features presented during the neonatal period. No patients presented during adolescence or at adult age. Seizures of different type are reported in about 20% of the patients at young age and seem to correlate with the degree of cerebrovascular damage. Brain MRI findings include periventricular and subcortical white matter disease, haemorrhagic changes, corpus callosum hypoplasia, cerebral atrophy and cerebellar hypoplasia. Ocular findings comprise a range of retinal vascular changes and optic atrophy, but also developmental defects like microphthalmia and cataract. Most findings may reflect changes following brain injury. Both (ischemic) vascular and inflammatory components may play a role in the cerebral and ocular phenotype. However, a role of disturbed apoptosis during development may also be a contributing factor. https://www.sciencedirect.com/science/article/abs/pii/S1769721212001346?via%3Dihub