Frequency and neuropathology of HTT repeat expansions in FTD/ALS: co-existence rather than causation
Our study does not support the notion of an increased frequency of HTT repeat expansions in FTD/ALS. Moreover, the phenotype of the HTT carrier identified can be better explained by two co-existent, but independent diseases: (i) ALS and (ii) presymptomatic HD, which-given the low repeat number-is likely to become manifest only later in life. These findings corroborate the concept that HTT repeat expansions are likely co-existent/coincidental, but not causative in FTD/ALS.
Authors
- Milan Zimmermann (ORCID: https://orcid.org/0000-0001-7066-7749)
- Tobias B. Haack (ORCID: https://orcid.org/0000-0001-6033-4836)
- Matthis Synofzik (ORCID: https://orcid.org/0000-0002-2280-7273)
- David Mengel (ORCID: https://orcid.org/0000-0002-4133-7182)
- Manuela Neumann (ORCID: https://orcid.org/0000-0002-6232-4057)
- Katrin Raupach
Institutions
- German Center for Neurodegenerative Diseases (DE)
- Hertie Institute for Clinical Brain Research (DE)
- STZ eyetrial (DE)
- University of Tübingen (DE)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2024-12-12
- DOI
- https://doi.org/10.1007/s00415-024-12822-2
- Citations
- 2
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.54
Funders
- European Commission
- Else Kröner-Fresenius-Stiftung
- Universitätsklinikum Tübingen