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Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
- Source :
-
Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Apr; Vol. 48 (3), pp. e12787. Date of Electronic Publication: 2021 Dec 28. - Publication Year :
- 2022
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Abstract
- Aims: Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in NOTCH2NLC (OPDM&#95;NOTCH2NLC) GIPC1 (OPDM&#95;GIPC1), or LRP12 (OPDM&#95;LRP12). Neuronal intranuclear inclusion disease (NIID) is clinically distinct from OPDM but is also caused by the expansion of CGG repeats in NOTCH2NLC, which may be an indicator of intranuclear inclusion in skin biopsy. We investigated the presence of intranuclear inclusions in skin biopsies from patients with OPDM and muscle diseases with a similar pathology to evaluate whether they will have similar diagnostic findings on skin biopsy.<br />Methods: We analysed the frequency of p62-positive intranuclear inclusions in sweat gland cells, adipocytes and fibroblasts in skin biopsy samples from patients with OPDM (OPDM&#95;NOTCH2NLC [n = 2], OPDM&#95;GIPC1 [n = 6] and OPDM&#95;LRP12 [n = 3]), NIID (n = 1), OPMD (n = 1), IBM (n = 4) and GNE myopathy (n = 2).<br />Results: The p62-postive intranuclear inclusions were observed in all three cell types in both patients with OPDM&#95;NOTCH2NLC and a patient with NIID, in at least one cell type in all six patients with OPDM&#95;GIPC1, and all in three cell types in one of the three patients with OPDM&#95;LRP12. These findings were not observed in patients with OPMD, IBM or GNE myopathy.<br />Conclusion: Intranuclear inclusions in skin biopsy samples are not specific to NIID and are found in all three types of genetically confirmed OPDM, suggesting that the underlying mechanism of OPDM may be similar to NIID, regardless of causative genes.<br /> (© 2021 British Neuropathological Society.)
Details
- Language :
- English
- ISSN :
- 1365-2990
- Volume :
- 48
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Neuropathology and applied neurobiology
- Publication Type :
- Academic Journal
- Accession number :
- 34927285
- Full Text :
- https://doi.org/10.1111/nan.12787