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- Title
Letter to the Editor: Novel TREM2 frameshift mutation in a 30-year-old woman with suspected frontotemporal dementia.
- Authors
Buthut, Maria; Reber, Philipp; Siebert, Eberhard; Eisenhut, Katharina; Thaler, Franziska; Finck, Josefine; Soekadar, Surjo R.; Prüss, Harald
- Abstract
With higher availability of WES, the diagnosis in our patient could have been established already at the time of onset of psychiatric symptoms or even earlier at the time of orthopaedic management of bone cysts with characteristics of internal fatty tissue indicative for NHD. In our opinion, clinical judgement in such cases cannot substitute genetic testing, as some diseases are rare and established red flags, such as positive family history, disease-specific MRI changes or "typical" symptoms are often absent or appear late in the disease course. Electroencephalography (EEG) revealed no epileptiform abnormalities but an asymmetric frontotemporal dysrhythmia during rest, with a pathological slowing of the dominant alpha frequency towards the theta band, and increased delta and beta power (Fig. Appendix EEG recording EEG recordings were analyzed using custom-written code in Python.
- Subjects
FRONTOTEMPORAL dementia; FRAMESHIFT mutation; EPISTOLARY fiction; FRONTAL lobe diseases; SIGNAL frequency estimation; FRONTOTEMPORAL lobar degeneration
- Publication
Neurological Sciences, 2023, Vol 44, Issue 7, p2581
- ISSN
1590-1874
- Publication type
Article
- DOI
10.1007/s10072-023-06726-8