Publications by authors named "M L Maat-Schieman"
Article Synopsis
- Cerebroretinal vasculopathy and related disorders are now recognized as a single disease linked to mutations in a specific gene, specifically termed ‘retinal vasculopathy with cerebral leukodystrophy’.
- In a study of 78 individuals from 11 families, researchers identified five different mutations and gathered extensive data, revealing that 64 mutation carriers exhibited vascular retinopathy and notable neuroimaging findings, such as white matter lesions.
- Clinical symptoms included a range of neurological issues, with a mean diagnosis age of 42.9 years and an average death age of 53.1 years, alongside systemic problems like liver disease and hypertension in many patients.
7 T MRI reveals diffuse iron deposition in putamen and caudate nucleus in CADASIL.
J Neurol Neurosurg Psychiatry
December 2012
Objective: Diffuse iron deposition in the brain is commonly found in older people. One of the possible mechanisms that contribute to this iron deposition is cerebral small vessel disease. The aim of this study is to quantify diffuse iron deposition in patients with the hereditary small vessel disease cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
View Article and Find Full Text PDFPreviously selected amyloid beta recognizing heavy chain antibody fragments (VHH) affinity binders derived from the Camelid heavy chain antibody repertoire were tested for their propensity to cross the blood-brain barrier (BBB) using an established in vitro BBB co-culture system. Of all tested VHH, ni3A showed highest transmigration efficiency which is, in part, facilitated by a three amino acid substitutions in its N-terminal domain. Additional studies indicated that the mechanism of transcellular passage of ni3A is by active transport.
View Article and Find Full Text PDFWeight loss is the most important non-neurological complication of Huntington's disease (HD). It correlates with disease progression and affects the quality of life of HD patients, suggesting that it could be a valuable target for therapeutic intervention. The mechanism underlying weight loss in HD is unknown.
View Article and Find Full Text PDFFor the interpretation of magnetic resonance imaging (MRI) abnormalities in brain pathology, often ex vivo tissue is used. The purpose of this study was to determine the pathological substrate of several distinct forms of MR hypointensities that were found in formalin-fixed brain tissue with amyloid-beta deposits. Samples of brain cortex were scanned using effective transverse relaxation time-weighted protocols at several resolutions on a 9.
View Article and Find Full Text PDF