Publications by authors named "Peter KOErtvelyessy"

Article Synopsis
  • - The study evaluates seizure characteristics in patients with antibody-associated autoimmune encephalitis (ab + AE) focusing on the three most common antibodies: NMDAR, LGI1, and GAD, involving 320 patients across multiple centers in Germany.
  • - Seizures were prevalent in these patients, with frequencies of 60% in NMDAR+, 78% in LGI1+, and 65% in GAD+, and certain types of seizures such as faciobrachial dystonic seizures and status epilepticus presented uniquely or more frequently in specific antibody groups.
  • - The findings suggest that seizure types can help in diagnosis, with distinct patterns observed among different antibodies, indicating that NMDAR+ patients tend to have
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Background: Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy. NER deficiencies manifest with photosensitivity and skin cancer, but also developmental delay and early-onset neurological degeneration. Adult-onset neurological features have been reported in only a few xeroderma pigmentosum cases, all showing at least mild skin manifestations.

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Neurodegenerative diseases are a growing burden, and there is an urgent need for better biomarkers for diagnosis, prognosis, and treatment efficacy. Structural and functional brain alterations are reflected in the protein composition of cerebrospinal fluid (CSF). Alzheimer's disease (AD) patients have higher CSF levels of tau, but we lack knowledge of systems-wide changes of CSF protein levels that accompany AD.

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