Publications by authors named "O Windl"

The diagnostic of individuals having suffered presumptive neurodegenerative disease comprises exclusion of a prion disease, extensive brain sampling and histopathological evaluation, which are resource-intensive and time consuming. To exclude prion disease and to achieve prompt accurate preliminary diagnosis, we developed a fast-track procedure for the histopathological assessment of brains from patients with suspected neurodegenerative disease. Based on the screening of two brain regions (frontal cortex and cerebellum) with H&E and six immunohistochemical stainings in 133 brain donors, a main histopathological diagnosis was established and compared to the final diagnosis made after a full histopathological work-up according to our brain bank standard procedure.

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Article Synopsis
  • The MAPT gene on chromosome 17 has two variants (H1 and H2), with H1 linked to a higher risk of tauopathies and Parkinson's disease (PD).
  • The study investigated how these haplotypes affect the expression of MAPT and SNCA (α-synuclein) in postmortem brain tissues of PD patients compared to controls, using real-time qPCR and Western blotting techniques.
  • Results showed increased MAPT mRNA levels in H1 homozygotes, while H2 was linked to higher antisense MAPT-AS1 expression, but no direct connection was found between MAPT overexpression and PD status, indicating that further research is needed.
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Tauopathies such as progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) exhibit characteristic neuronal and glial inclusions of hyperphosphorylated Tau (pTau). Although the astrocytic pTau phenotype upon neuropathological examination is the most guiding feature in distinguishing both diseases, regulatory mechanisms controlling their transitions into disease-specific states are poorly understood to date. Here, we provide accessible chromatin data of more than 45,000 single nuclei isolated from the frontal cortex of PSP, CBD, and control individuals.

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Article Synopsis
  • Study Background
  • : The research focuses on a six-generation family from North Bavaria with confirmed cases of multiple system atrophy (MSA) and Parkinson's disease (PD), contrasting the commonly held belief that MSA is a sporadic disorder.
  • Findings
  • : Neuropathological examinations revealed that the index case had cerebellar variant MSA, while a cousin exhibited both Lewy body disease and tau pathology, supporting the idea of a hereditary link to parkinsonism.
  • Genetic Analysis
  • : Despite thorough genetic testing, no known hereditary causes for their conditions were found, suggesting the possibility of undiscovered genetic factors contributing to the neurodegenerative disease cluster observed in the family.
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