Publications by authors named "D M Yilmazer-Hanke"
Anti-IgLON5 disease is a unique condition that bridges autoimmunity and neurodegeneration. Since its initial description 10 years ago, an increasing number of autopsies has led to the observation of a broader spectrum of neuropathologies underlying a particular constellation of clinical symptoms. In this study, we describe the neuropathological findings in 22 patients with anti-IgLON5 disease from 9 different European centers.
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- Heterozygous mutations in the TBK1 gene are linked to neurodegenerative diseases like ALS and FTD, with most patients carrying harmful loss-of-expression mutations.
- The study focused on the p.E696K missense variant of TBK1, which doesn't completely stop protein expression but disrupts its interaction with the autophagy protein optineurin.
- Research showed that this mutation leads to early dysfunction in neuron recycling processes, resulting in damaged lysosomes and eventually causing a progressive motor neuron disease, highlighting potential therapeutic targets for treatment.
Vascular risk factors such as chronic hypertension are well-established major modifiable factors for the development of cerebral small vessel disease (cSVD). In the present study, our focus was the investigation of cSVD-related phenotypic changes in microglia in human disease and in the spontaneously hypertensive stroke-prone rat (SHRSP) model of cSVD. Our examination of cortical microglia in human post-mortem cSVD cortical tissue revealed distinct morphological microglial features specific to cSVD.
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