| Autor: |
Nasello, Martina, Zancan, Valeria, Reniè, Roberta, Romano, Silvia, Buscarinu, Maria Chiara, Ristori, Giovanni, Salvetti, Marco, Bellucci, Gianmarco |
| Předmět: |
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| Zdroj: |
Neurological Sciences; Aug2024, Vol. 45 Issue 8, p4067-4070, 4p |
| Abstrakt: |
This article describes a case of co-existing Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease (MOGAD) and Spinocerebellar Ataxia type 1 (SCA1). MOGAD is an autoimmune demyelinating disorder of the central nervous system, while SCA1 is a genetic disorder that affects the cerebellum. The patient in this case inherited an expansion in the ataxin-1 (ATX-1) gene from her father, who had SCA1. This is the first reported case of a patient with both MOGAD and ATX-1 gene expansion. The article suggests that ATX-1 may have an immunomodulatory role and could potentially influence the pathogenesis and severity of demyelinating diseases. Further research is needed to understand the impact of ATX-1 expansion or variants in the development and clinical course of MOGAD. [Extracted from the article] |
| Databáze: |
Complementary Index |
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