Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?
A high SNAP amplitude suggests sensory fibre hyperactivity, which may be based on overactivation of metabolic pathways as an adaptive mechanism in response to SMN protein deficiency with additionally coexisting small C- and A-delta fibre damage. SMA patients seem to have a concomitant, mild demyelinating process present at the early SMA stage.
Authors
- Edyta Dziadkowiak (ORCID: https://orcid.org/0000-0002-9618-9308)
- Magdalena Koszewicz (ORCID: https://orcid.org/0000-0002-8057-1617)
- Jakub Ubysz (ORCID: https://orcid.org/0000-0001-7356-0998)
- Małgorzata Wieczorek (ORCID: https://orcid.org/0000-0002-2837-2629)
- Sławomir Budrewićz (ORCID: https://orcid.org/0000-0002-2044-6347)
Institutions
- University of Wrocław (PL)
- Wrocław University of Environmental and Life Sciences (PL)
- Wroclaw Medical University (PL)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-03
- DOI
- https://doi.org/10.1186/s13023-024-03339-y
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Uniwersytet Medyczny im. Piastów Slaskich we Wroclawiu